Polymorphism, Genetic: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Gene Frequency: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Haplotypes: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.Case-Control Studies: Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Polymorphism, Single-Stranded Conformational: Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.Genetic Association Studies: The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.Linkage Disequilibrium: Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone.Asian Continental Ancestry Group: Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.Genetic Variation: Genotypic differences observed among individuals in a population.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Homozygote: An individual in which both alleles at a given locus are identical.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Risk Factors: An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Methylenetetrahydrofolate Reductase (NADPH2): A flavoprotein amine oxidoreductase that catalyzes the reversible conversion of 5-methyltetrahydrofolate to 5,10-methylenetetrahydrofolate. This enzyme was formerly classified as EC 188.8.131.52.European Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Europe.Amplified Fragment Length Polymorphism Analysis: The detection of RESTRICTION FRAGMENT LENGTH POLYMORPHISMS by selective PCR amplification of restriction fragments derived from genomic DNA followed by electrophoretic analysis of the amplified restriction fragments.China: A country spanning from central Asia to the Pacific Ocean.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Promoter Regions, Genetic: DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Odds Ratio: The ratio of two odds. The exposure-odds ratio for case control data is the ratio of the odds in favor of exposure among cases to the odds in favor of exposure among noncases. The disease-odds ratio for a cohort or cross section is the ratio of the odds in favor of disease among the exposed to the odds in favor of disease among the unexposed. The prevalence-odds ratio refers to an odds ratio derived cross-sectionally from studies of prevalent cases.DNA Primers: Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Microsatellite Repeats: A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).Genome-Wide Association Study: An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Peptidyl-Dipeptidase A: A peptidyl-dipeptidase that catalyzes the release of a C-terminal dipeptide, -Xaa-*-Xbb-Xcc, when neither Xaa nor Xbb is Pro. It is a Cl(-)-dependent, zinc glycoprotein that is generally membrane-bound and active at neutral pH. It may also have endopeptidase activity on some substrates. (From Enzyme Nomenclature, 1992) EC 184.108.40.206.Genetics, Population: The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.Glutathione Transferase: A transferase that catalyzes the addition of aliphatic, aromatic, or heterocyclic FREE RADICALS as well as EPOXIDES and arene oxides to GLUTATHIONE. Addition takes place at the SULFUR. It also catalyzes the reduction of polyol nitrate by glutathione to polyol and nitrite.Catechol O-Methyltransferase: Enzyme that catalyzes the movement of a methyl group from S-adenosylmethionone to a catechol or a catecholamine.Amino Acid Substitution: The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.JapanPhylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Introns: Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.DNA: A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).Pharmacogenetics: A branch of genetics which deals with the genetic variability in individual responses to drugs and drug metabolism (BIOTRANSFORMATION).Minisatellite Repeats: Tandem arrays of moderately repetitive, short (10-60 bases) DNA sequences which are found dispersed throughout the GENOME, at the ends of chromosomes (TELOMERES), and clustered near telomeres. Their degree of repetition is two to several hundred at each locus. Loci number in the thousands but each locus shows a distinctive repeat unit.Glutathione S-Transferase pi: A glutathione transferase that catalyzes the conjugation of electrophilic substrates to GLUTATHIONE. This enzyme has been shown to provide cellular protection against redox-mediated damage by FREE RADICALS.Models, Genetic: Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.Cohort Studies: Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.Codon: A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE).Deoxyribonucleases, Type II Site-Specific: Enzyme systems containing a single subunit and requiring only magnesium for endonucleolytic activity. The corresponding modification methylases are separate enzymes. The systems recognize specific short DNA sequences and cleave either within, or at a short specific distance from, the recognition sequence to give specific double-stranded fragments with terminal 5'-phosphates. Enzymes from different microorganisms with the same specificity are called isoschizomers. EC 220.127.116.11.INDEL Mutation: A mutation named with the blend of insertion and deletion. It refers to a length difference between two ALLELES where it is unknowable if the difference was originally caused by a SEQUENCE INSERTION or by a SEQUENCE DELETION. If the number of nucleotides in the insertion/deletion is not divisible by three, and it occurs in a protein coding region, it is also a FRAMESHIFT MUTATION.Risk: The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome.Serotonin Plasma Membrane Transport Proteins: Sodium chloride-dependent neurotransmitter symporters located primarily on the PLASMA MEMBRANE of serotonergic neurons. They are different than SEROTONIN RECEPTORS, which signal cellular responses to SEROTONIN. They remove SEROTONIN from the EXTRACELLULAR SPACE by high affinity reuptake into PRESYNAPTIC TERMINALS. Regulates signal amplitude and duration at serotonergic synapses and is the site of action of the SEROTONIN UPTAKE INHIBITORS.Selection, Genetic: Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.Xeroderma Pigmentosum Group D Protein: A DNA helicase that is a component of TRANSCRIPTION FACTOR TFIIH. It plays an essential role in NUCLEOTIDE EXCISION REPAIR, and mutations in this protein are associated with XERODERMA PIGMENTOSUM.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Genotyping Techniques: Methods used to determine individuals' specific ALLELES or SNPS (single nucleotide polymorphisms).Aryl Hydrocarbon Hydroxylases: A large group of cytochrome P-450 (heme-thiolate) monooxygenases that complex with NAD(P)H-FLAVIN OXIDOREDUCTASE in numerous mixed-function oxidations of aromatic compounds. They catalyze hydroxylation of a broad spectrum of substrates and are important in the metabolism of steroids, drugs, and toxins such as PHENOBARBITAL, carcinogens, and insecticides.Genetic Loci: Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.Publication Bias: The influence of study results on the chances of publication and the tendency of investigators, reviewers, and editors to submit or accept manuscripts for publication based on the direction or strength of the study findings. Publication bias has an impact on the interpretation of clinical trials and meta-analyses. Bias can be minimized by insistence by editors on high-quality research, thorough literature reviews, acknowledgement of conflicts of interest, modification of peer review practices, etc.Korea: Former kingdom, located on Korea Peninsula between Sea of Japan and Yellow Sea on east coast of Asia. In 1948, the kingdom ceased and two independent countries were formed, divided by the 38th parallel.Genetic Testing: Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.Species Specificity: The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.DNA Fingerprinting: A technique for identifying individuals of a species that is based on the uniqueness of their DNA sequence. Uniqueness is determined by identifying which combination of allelic variations occur in the individual at a statistically relevant number of different loci. In forensic studies, RESTRICTION FRAGMENT LENGTH POLYMORPHISM of multiple, highly polymorphic VNTR LOCI or MICROSATELLITE REPEAT loci are analyzed. The number of loci used for the profile depends on the ALLELE FREQUENCY in the population.Receptors, Calcitriol: Proteins, usually found in the cytoplasm, that specifically bind calcitriol, migrate to the nucleus, and regulate transcription of specific segments of DNA with the participation of D receptor interacting proteins (called DRIP). Vitamin D is converted in the liver and kidney to calcitriol and ultimately acts through these receptors.Aryldialkylphosphatase: An enzyme which catalyzes the hydrolysis of an aryl-dialkyl phosphate to form dialkyl phosphate and an aryl alcohol. It can hydrolyze a broad spectrum of organophosphate substrates and a number of aromatic carboxylic acid esters. It may also mediate an enzymatic protection of LOW DENSITY LIPOPROTEINS against oxidative modification and the consequent series of events leading to ATHEROMA formation. The enzyme was previously regarded to be identical with Arylesterase (EC 18.104.22.168).Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Arylamine N-Acetyltransferase: An enzyme that catalyzes the transfer of acetyl groups from ACETYL-COA to arylamines. It can also catalyze acetyl transfer between arylamines without COENZYME A and has a wide specificity for aromatic amines, including SEROTONIN. However, arylamine N-acetyltransferase should not be confused with the enzyme ARYLALKYLAMINE N-ACETYLTRANSFERASE which is also referred to as SEROTONIN ACETYLTRANSFERASE.Smoking: Inhaling and exhaling the smoke of burning TOBACCO.Genome, Human: The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)Cytochrome P-450 CYP1A1: A liver microsomal cytochrome P-450 monooxygenase capable of biotransforming xenobiotics such as polycyclic hydrocarbons and halogenated aromatic hydrocarbons into carcinogenic or mutagenic compounds. They have been found in mammals and fish. This enzyme, encoded by CYP1A1 gene, can be measured by using ethoxyresorufin as a substrate for the ethoxyresorufin O-deethylase activity.Ethnic Groups: A group of people with a common cultural heritage that sets them apart from others in a variety of social relationships.Logistic Models: Statistical models which describe the relationship between a qualitative dependent variable (that is, one which can take only certain discrete values, such as the presence or absence of a disease) and an independent variable. A common application is in epidemiology for estimating an individual's risk (probability of a disease) as a function of a given risk factor.Dinucleotide Repeats: The most common of the microsatellite tandem repeats (MICROSATELLITE REPEATS) dispersed in the euchromatic arms of chromosomes. They consist of two nucleotides repeated in tandem; guanine and thymine, (GT)n, is the most frequently seen.Tandem Repeat Sequences: Copies of DNA sequences which lie adjacent to each other in the same orientation (direct tandem repeats) or in the opposite direction to each other (INVERTED TANDEM REPEATS).Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Chi-Square Distribution: A distribution in which a variable is distributed like the sum of the squares of any given independent random variable, each of which has a normal distribution with mean of zero and variance of one. The chi-square test is a statistical test based on comparison of a test statistic to a chi-square distribution. The oldest of these tests are used to detect whether two or more population distributions differ from one another.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.Heterozygote Detection: Identification of genetic carriers for a given trait.Age of Onset: The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.DNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase: An enzyme that catalyzes the formation of methionine by transfer of a methyl group from 5-methyltetrahydrofolate to homocysteine. It requires a cobamide coenzyme. The enzyme can act on mono- or triglutamate derivatives. EC 22.214.171.124.IndiaDiabetes Mellitus, Type 2: A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY.Tunisia: A country in northern Africa between ALGERIA and LIBYA. Its capital is Tunis.Valine: A branched-chain essential amino acid that has stimulant activity. It promotes muscle growth and tissue repair. It is a precursor in the penicillin biosynthetic pathway.Cytochrome P-450 CYP2E1: An ethanol-inducible cytochrome P450 enzyme that metabolizes several precarcinogens, drugs, and solvents to reactive metabolites. Substrates include ETHANOL; INHALATION ANESTHETICS; BENZENE; ACETAMINOPHEN and other low molecular weight compounds. CYP2E1 has been used as an enzyme marker in the study of alcohol abuse.Colorectal Neoplasms: Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.3' Untranslated Regions: The sequence at the 3' end of messenger RNA that does not code for product. This region contains transcription and translation regulating sequences.Epistasis, Genetic: A form of gene interaction whereby the expression of one gene interferes with or masks the expression of a different gene or genes. Genes whose expression interferes with or masks the effects of other genes are said to be epistatic to the effected genes. Genes whose expression is affected (blocked or masked) are hypostatic to the interfering genes.Breast Neoplasms: Tumors or cancer of the human BREAST.Bacterial Typing Techniques: Procedures for identifying types and strains of bacteria. The most frequently employed typing systems are BACTERIOPHAGE TYPING and SEROTYPING as well as bacteriocin typing and biotyping.DNA, Plant: Deoxyribonucleic acid that makes up the genetic material of plants.PolandGlucuronosyltransferase: A family of enzymes accepting a wide range of substrates, including phenols, alcohols, amines, and fatty acids. They function as drug-metabolizing enzymes that catalyze the conjugation of UDPglucuronic acid to a variety of endogenous and exogenous compounds. EC 126.96.36.199.Apolipoproteins E: A class of protein components which can be found in several lipoproteins including HIGH-DENSITY LIPOPROTEINS; VERY-LOW-DENSITY LIPOPROTEINS; and CHYLOMICRONS. Synthesized in most organs, Apo E is important in the global transport of lipids and cholesterol throughout the body. Apo E is also a ligand for LDL receptors (RECEPTORS, LDL) that mediates the binding, internalization, and catabolism of lipoprotein particles in cells. There are several allelic isoforms (such as E2, E3, and E4). Deficiency or defects in Apo E are causes of HYPERLIPOPROTEINEMIA TYPE III.Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.Gene-Environment Interaction: The combined effects of genotypes and environmental factors together on phenotypic characteristics.DNA, Mitochondrial: Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.Genes, p53: Tumor suppressor genes located on the short arm of human chromosome 17 and coding for the phosphoprotein p53.Disease Susceptibility: A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases.TaiwanSequence Alignment: The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.Mannose-Binding Lectin: A specific mannose-binding member of the collectin family of lectins. It binds to carbohydrate groups on invading pathogens and plays a key role in the MANNOSE-BINDING LECTIN COMPLEMENT PATHWAY.DNA-Binding Proteins: Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.Cytochrome P-450 CYP2D6: A cytochrome P450 enzyme that catalyzes the hydroxylation of many drugs and environmental chemicals, such as DEBRISOQUINE; ADRENERGIC RECEPTOR ANTAGONISTS; and TRICYCLIC ANTIDEPRESSANTS. This enzyme is deficient in up to 10 percent of the Caucasian population.Receptors, Dopamine D4: A subtype of dopamine D2 receptors that has high affinity for the antipsychotic CLOZAPINE.Folic Acid: A member of the vitamin B family that stimulates the hematopoietic system. It is present in the liver and kidney and is found in mushrooms, spinach, yeast, green leaves, and grasses (POACEAE). Folic acid is used in the treatment and prevention of folate deficiencies and megaloblastic anemia.Prognosis: A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.Molecular Epidemiology: The application of molecular biology to the answering of epidemiological questions. The examination of patterns of changes in DNA to implicate particular carcinogens and the use of molecular markers to predict which individuals are at highest risk for a disease are common examples.DNA, Neoplasm: DNA present in neoplastic tissue.Lung Neoplasms: Tumors or cancer of the LUNG.Reference Values: The range or frequency distribution of a measurement in a population (of organisms, organs or things) that has not been selected for the presence of disease or abnormality.Epoxide Hydrolases: Enzymes that catalyze reversibly the formation of an epoxide or arene oxide from a glycol or aromatic diol, respectively.Stomach Neoplasms: Tumors or cancer of the STOMACH.Genetic Heterogeneity: The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)TurkeyItalyRepetitive Sequences, Nucleic Acid: Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).Prospective Studies: Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.Random Amplified Polymorphic DNA Technique: Technique that utilizes low-stringency polymerase chain reaction (PCR) amplification with single primers of arbitrary sequence to generate strain-specific arrays of anonymous DNA fragments. RAPD technique may be used to determine taxonomic identity, assess kinship relationships, analyze mixed genome samples, and create specific probes.Spain: Parliamentary democracy located between France on the northeast and Portugual on the west and bordered by the Atlantic Ocean and the Mediterranean Sea.Recombination, Genetic: Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.DNA Transposable Elements: Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.BrazilAfrican Americans: Persons living in the United States having origins in any of the black groups of Africa.Hypertension: Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more.EuropeDeoxyribonuclease HpaII: One of the Type II site-specific deoxyribonucleases (EC 188.8.131.52). It recognizes and cleaves the sequences C/CGG and GGC/C at the slash. HpaII is from Haemophilus parainfluenzae. Several isoschizomers have been identified. EC 3.1.21.-.Antigens, Human Platelet: Human alloantigens expressed only on platelets, specifically on platelet membrane glycoproteins. These platelet-specific antigens are immunogenic and can result in pathological reactions to transfusion therapy.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.5' Untranslated Regions: The sequence at the 5' end of the messenger RNA that does not code for product. This sequence contains the ribosome binding site and other transcription and translation regulating sequences.Genomics: The systematic study of the complete DNA sequences (GENOME) of organisms.Biological Evolution: The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.DNA Repair: The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.P-Glycoprotein: A 170-kDa transmembrane glycoprotein from the superfamily of ATP-BINDING CASSETTE TRANSPORTERS. It serves as an ATP-dependent efflux pump for a variety of chemicals, including many ANTINEOPLASTIC AGENTS. Overexpression of this glycoprotein is associated with multidrug resistance (see DRUG RESISTANCE, MULTIPLE).Tumor Necrosis Factor-alpha: Serum glycoprotein produced by activated MACROPHAGES and other mammalian MONONUCLEAR LEUKOCYTES. It has necrotizing activity against tumor cell lines and increases ability to reject tumor transplants. Also known as TNF-alpha, it is only 30% homologous to TNF-beta (LYMPHOTOXIN), but they share TNF RECEPTORS.Risk Assessment: The qualitative or quantitative estimation of the likelihood of adverse effects that may result from exposure to specified health hazards or from the absence of beneficial influences. (Last, Dictionary of Epidemiology, 1988)Genome, Plant: The genetic complement of a plant (PLANTS) as represented in its DNA.Czech Republic: Created 1 January 1993 as a result of the division of Czechoslovakia into the Czech Republic and Slovakia.DNA Probes: Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.Gene Dosage: The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.DNA, Ribosomal: DNA sequences encoding RIBOSOMAL RNA and the segments of DNA separating the individual ribosomal RNA genes, referred to as RIBOSOMAL SPACER DNA.Sequence Homology, Nucleic Acid: The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.Geography: The science dealing with the earth and its life, especially the description of land, sea, and air and the distribution of plant and animal life, including humanity and human industries with reference to the mutual relations of these elements. (From Webster, 3d ed)Cluster Analysis: A set of statistical methods used to group variables or observations into strongly inter-related subgroups. In epidemiology, it may be used to analyze a closely grouped series of events or cases of disease or other health-related phenomenon with well-defined distribution patterns in relation to time or place or both.HLA-DRB1 Chains: A subtype of HLA-DRB beta chains that includes over one hundred allele variants. The HLA-DRB1 subtype is associated with several of the HLA-DR SEROLOGICAL SUBTYPES.Multigene Family: A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)DNA, Protozoan: Deoxyribonucleic acid that makes up the genetic material of protozoa.Aldosterone Synthase: A mitochondrial cytochrome P450 enzyme that catalyzes the 18-hydroxylation of steroids in the presence of molecular oxygen and NADPH-specific flavoprotein. This enzyme, encoded by CYP11B2 gene, is important in the conversion of CORTICOSTERONE to 18-hydroxycorticosterone and the subsequent conversion to ALDOSTERONE.Carrier Proteins: Transport proteins that carry specific substances in the blood or across cell membranes.Apolipoprotein C-III: A 9-kDa protein component of VERY-LOW-DENSITY LIPOPROTEINS and CHYLOMICRON REMNANTS. Apo C-III, synthesized in the liver, is an inhibitor of LIPOPROTEIN LIPASE. Apo C-III modulates the binding of chylomicron remnants and VLDL to receptors (RECEPTORS, LDL) thus decreases the uptake of triglyceride-rich particles by the liver cells and subsequent degradation. The normal Apo C-III is glycosylated. There are several polymorphic forms with varying amounts of SIALIC ACID (Apo C-III-0, Apo C-III-1, and Apo C-III-2).Lymphotoxin-alpha: A tumor necrosis factor family member that is released by activated LYMPHOCYTES. Soluble lymphotoxin is specific for TUMOR NECROSIS FACTOR RECEPTOR TYPE I; TUMOR NECROSIS FACTOR RECEPTOR TYPE II; and TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 14. Lymphotoxin-alpha can form a membrane-bound heterodimer with LYMPHOTOXIN-BETA that has specificity for the LYMPHOTOXIN BETA RECEPTOR.Cytochrome P-450 Enzyme System: A superfamily of hundreds of closely related HEMEPROTEINS found throughout the phylogenetic spectrum, from animals, plants, fungi, to bacteria. They include numerous complex monooxygenases (MIXED FUNCTION OXYGENASES). In animals, these P-450 enzymes serve two major functions: (1) biosynthesis of steroids, fatty acids, and bile acids; (2) metabolism of endogenous and a wide variety of exogenous substrates, such as toxins and drugs (BIOTRANSFORMATION). They are classified, according to their sequence similarities rather than functions, into CYP gene families (>40% homology) and subfamilies (>59% homology). For example, enzymes from the CYP1, CYP2, and CYP3 gene families are responsible for most drug metabolism.EsterasesHomocysteine: A thiol-containing amino acid formed by a demethylation of METHIONINE.Carcinoma, Squamous Cell: A carcinoma derived from stratified SQUAMOUS EPITHELIAL CELLS. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)Protein Tyrosine Phosphatase, Non-Receptor Type 22: A subtype of non-receptor protein tyrosine phosphatases that is characterized by the presence of an N-terminal catalytic domain and a C-terminal PROLINE-rich domain. The phosphatase subtype is predominantly expressed in LYMPHOCYTES and plays a key role in the inhibition of downstream T-LYMPHOCYTE activation. Polymorphisms in the gene that encodes this phosphatase subtype are associated with a variety of AUTOIMMUNE DISEASES.RNA, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.Sex Factors: Maleness or femaleness as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or effect of a circumstance. It is used with human or animal concepts but should be differentiated from SEX CHARACTERISTICS, anatomical or physiological manifestations of sex, and from SEX DISTRIBUTION, the number of males and females in given circumstances.Membrane Transport Proteins: Membrane proteins whose primary function is to facilitate the transport of molecules across a biological membrane. Included in this broad category are proteins involved in active transport (BIOLOGICAL TRANSPORT, ACTIVE), facilitated transport and ION CHANNELS.Regression Analysis: Procedures for finding the mathematical function which best describes the relationship between a dependent variable and one or more independent variables. In linear regression (see LINEAR MODELS) the relationship is constrained to be a straight line and LEAST-SQUARES ANALYSIS is used to determine the best fit. In logistic regression (see LOGISTIC MODELS) the dependent variable is qualitative rather than continuously variable and LIKELIHOOD FUNCTIONS are used to find the best relationship. In multiple regression, the dependent variable is considered to depend on more than a single independent variable.Disease Progression: The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.Transcription Factor 7-Like 2 Protein: A transcription factor that takes part in WNT signaling pathway. The activity of the protein is regulated via its interaction with BETA CATENIN. Transcription factor 7-like 2 protein plays an important role in the embryogenesis of the PANCREAS and ISLET CELLS.Confidence Intervals: A range of values for a variable of interest, e.g., a rate, constructed so that this range has a specified probability of including the true value of the variable.Receptor, Serotonin, 5-HT2A: A serotonin receptor subtype found widely distributed in peripheral tissues where it mediates the contractile responses of variety of tissues that contain SMOOTH MUSCLE. Selective 5-HT2A receptor antagonists include KETANSERIN. The 5-HT2A subtype is also located in BASAL GANGLIA and CEREBRAL CORTEX of the BRAIN where it mediates the effects of HALLUCINOGENS such as LSD.Crosses, Genetic: Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.Blotting, Southern: A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.Interleukin 1 Receptor Antagonist Protein: A ligand that binds to but fails to activate the INTERLEUKIN 1 RECEPTOR. It plays an inhibitory role in the regulation of INFLAMMATION and FEVER. Several isoforms of the protein exist due to multiple ALTERNATIVE SPLICING of its mRNA.Ferredoxin-NADP Reductase: An enzyme that catalyzes the oxidation and reduction of FERREDOXIN or ADRENODOXIN in the presence of NADP. EC 184.108.40.206 was formerly listed as EC 220.127.116.11 and EC 18.104.22.168.Steroid 17-alpha-Hydroxylase: A microsomal cytochrome P450 enzyme that catalyzes the 17-alpha-hydroxylation of progesterone or pregnenolone and subsequent cleavage of the residual two carbons at C17 in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. This enzyme, encoded by CYP17 gene, generates precursors for glucocorticoid, androgen, and estrogen synthesis. Defects in CYP17 gene cause congenital adrenal hyperplasia (ADRENAL HYPERPLASIA, CONGENITAL) and abnormal sexual differentiation.Coronary Artery Disease: Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause.Databases, Genetic: Databases devoted to knowledge about specific genes and gene products.DNA, Ribosomal Spacer: The intergenic DNA segments that are between the ribosomal RNA genes (internal transcribed spacers) and between the tandemly repeated units of rDNA (external transcribed spacers and nontranscribed spacers).Cytosine: A pyrimidine base that is a fundamental unit of nucleic acids.Body Mass Index: An indicator of body density as determined by the relationship of BODY WEIGHT to BODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention)Analysis of Variance: A statistical technique that isolates and assesses the contributions of categorical independent variables to variation in the mean of a continuous dependent variable.Lupus Erythematosus, Systemic: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.Oligonucleotide Array Sequence Analysis: Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.Expressed Sequence Tags: Partial cDNA (DNA, COMPLEMENTARY) sequences that are unique to the cDNAs from which they were derived.Adenocarcinoma: A malignant epithelial tumor with a glandular organization.Chromosome Inversion: An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.Treatment Outcome: Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.Genes: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.Chromosomes, Human, Pair 6: A specific pair GROUP C CHROMSOMES of the human chromosome classification.Reverse Transcriptase Polymerase Chain Reaction: A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.Apolipoproteins A: Structural proteins of the alpha-lipoproteins (HIGH DENSITY LIPOPROTEINS), including APOLIPOPROTEIN A-I and APOLIPOPROTEIN A-II. They can modulate the activity of LECITHIN CHOLESTEROL ACYLTRANSFERASE. These apolipoproteins are low in atherosclerotic patients. They are either absent or present in extremely low plasma concentration in TANGIER DISEASE.IranQuantitative Trait, Heritable: A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)Sex Characteristics: Those characteristics that distinguish one SEX from the other. The primary sex characteristics are the OVARIES and TESTES and their related hormones. Secondary sex characteristics are those which are masculine or feminine but not directly related to reproduction.Lipids: A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)Arthritis, Rheumatoid: A chronic systemic disease, primarily of the joints, marked by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. Etiology is unknown, but autoimmune mechanisms have been implicated.Receptors, IgG: Specific molecular sites on the surface of various cells, including B-lymphocytes and macrophages, that combine with IMMUNOGLOBULIN Gs. Three subclasses exist: Fc gamma RI (the CD64 antigen, a low affinity receptor), Fc gamma RII (the CD32 antigen, a high affinity receptor), and Fc gamma RIII (the CD16 antigen, a low affinity receptor).Membrane Proteins: Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.Interleukin-10: A cytokine produced by a variety of cell types, including T-LYMPHOCYTES; MONOCYTES; DENDRITIC CELLS; and EPITHELIAL CELLS that exerts a variety of effects on immunoregulation and INFLAMMATION. Interleukin-10 combines with itself to form a homodimeric molecule that is the biologically active form of the protein.Prostatic Neoplasms: Tumors or cancer of the PROSTATE.
Standardized nomenclature for inbred strains of mice: sixth listing. (1/24239)Rules for designating inbred strains of mice are presented, along with a list of strains with their origins and characteristics, a table of biochemical polymorphisms, and standard subline designations. (+info)
Hidden genetic variability within electromorphs in finite populations. (2/24239)The amount of hidden genetic variability within electromorphs in finite populations is studied by using the infinite site model and stepwise mutation model simultaneously. A formula is developed for the bivariate probability generating function for the number of codon differences and the number of electromorph state differences between two randomly chosen cistrons. Using this formula, the distribution as well as the mean and variance of the number of codon differences between two identical or nonidentical electromorphs are studied. The distribution of the number of codon differences between two randomly chosen identical electromorphs is similar to the geometric distribution but more leptokurtic. Studies are also made on the number of codon differences between two electromorphs chosen at random one from each of two populations which have been separated for an arbitrary number of generations. It is shown that the amount of hidden genetic variability is very large if the product of effective population size and mutation rate is large. (+info)
Lack of genic similarity between two sibling species of drosophila as revealed by varied techniques. (3/24239)Acrylamide gel electrophoresis was performed on the enzyme xanthine dehydrogenase in sixty isochromosomal lines of Drosophila persimilis from three geographic populations. Sequential electrophoretic analysis using varied gel concentrations and buffers revealed twenty-three alleles in this species where only five had been described previously. These new electrophoretic techniques also detected a profound increase in divergence of gene frequencies at this locus between D. persimilis and its sibling species D. pseudoobscura. The implications of these results for questions of speciation and the maintenance of genetic variability are discussed. (+info)
Genetic heterogeneity within electrophoretic "alleles" of xanthine dehydrogenase in Drosophila pseudoobscura. (4/24239)An experimental plan for an exhaustive determination of genic variation at structural gene loci is presented. In the initial steps of this program, 146 isochromosomal lines from 12 geographic populations of D. pseudoobscura were examined for allelic variation of xanthine dehydrogenase by the serial use of 4 different electrophoretic conditions and a head stability test. The 5 criteria revealed a total of 37 allelic classes out of the 146 genomes examined where only 6 had been previously revealed by the usual method of gel electrophoresis. This immense increase in genic variation also showed previously unsuspected population differences between the main part of the species distribution and the isolated population of Bogota population. The average heterozygosity at the Xdh locus is at least 72% in natural populations. This result, together with the very large number of alleles segregating and the pattern of allelic frequencies, has implications for theories of genetic polymorphism which are discussed. (+info)
Polymorphism in a cyclic parthenogenetic species: Simocephalus serrulatus. (5/24239)A survey of sixteen isozyme loci using electrophoretic techniques was conducted for three isolated natural populations and one laboratory population of the cyclic parthenogenetic species, Simocephalus serrulatus. The proportion of polymorphic loci (33%-60%) and the average number of heterozygous loci per individual (6%-23%) in the three natural populations were found to be comparable to those found in most sexually reproducing organisms. Detailed analyses were made for one of these populations using five polymorphic loci. The results indicated that (1) seasonal changes in genotypic frequencies took place, (2) apomicitic parthenogenesis does not lead to genetic homogeneity, and (3) marked gametic disequilibrium at these five loci was present in the population, indicating that selection acted on coadapted groups of genes. (+info)
Testing for selective neutrality of electrophoretically detectable protein polymorphisms. (6/24239)The statistical assessment of gene-frequency data on protein polymorphisms in natural populations remains a contentious issue. Here we formulate a test of whether polymorphisms detected by electrophoresis are in accordance with the stepwise, or charge-state, model of mutation in finite populations in the absence of selection. First, estimates of the model parameters are derived by minimizing chi-square deviations of the observed frequencies of genotypes with alleles (0,1,2...) units apart from their theoretical expected values. Then the remaining deviation is tested under the null hypothesis of neutrality. The procedure was found to be conservative for false rejections in simulation data. We applied the test to Ayala and Tracey 's data on 27 allozymic loci in six populations of Drosophila willistoni . About one-quarter of polymorphic loci showed significant departure from the neutral theory predictions in virtually all populations. A further quarter showed significant departure in some populations. The remaining data showed an acceptable fit to the charge state model. A predominating mode of selection was selection against alleles associated with extreme electrophoretic mobilities. The advantageous properties and the difficulties of the procedure are discussed. (+info)
Mining SNPs from EST databases. (7/24239)There is considerable interest in the discovery and characterization of single nucleotide polymorphisms (SNPs) to enable the analysis of the potential relationships between human genotype and phenotype. Here we present a strategy that permits the rapid discovery of SNPs from publicly available expressed sequence tag (EST) databases. From a set of ESTs derived from 19 different cDNA libraries, we assembled 300,000 distinct sequences and identified 850 mismatches from contiguous EST data sets (candidate SNP sites), without de novo sequencing. Through a polymerase-mediated, single-base, primer extension technique, Genetic Bit Analysis (GBA), we confirmed the presence of a subset of these candidate SNP sites and have estimated the allele frequencies in three human populations with different ethnic origins. Altogether, our approach provides a basis for rapid and efficient regional and genome-wide SNP discovery using data assembled from sequences from different libraries of cDNAs. (+info)
Adducin polymorphism affects renal proximal tubule reabsorption in hypertension. (8/24239)Abnormalities in renal sodium reabsorption may be involved in the development and maintenance of experimental and clinical hypertension. Adducin polymorphism is thought to regulate ion transport in the renal tubule. It has recently been shown that there is a significant linkage of alpha-adducin locus to essential hypertension and that the 460Trp allele is associated with hypertension. Patients with this allele display larger blood pressure changes with body sodium variation. The aim of this study was to test whether alpha-adducin polymorphism is involved in abnormalities of renal function. Because proximal tubular reabsorption has been shown to be tightly coupled to renal perfusion pressure, this segmental tubular function was investigated in 54 (29 Gly/Gly and 25 Gly/Trp) untreated hypertensive patients in basal conditions with the use of endogenous lithium concentration and uric acid. Fractional excretions of lithium and uric acid were significantly decreased in the Gly/Trp hypertensive patients compared with the Gly/Gly hypertensives. The contribution of alpha-adducin to fractional excretion of lithium was investigated by multiple regression analysis. Adducin genotype was significantly (R2=0.11, F=6.5; P<0.01) and directly related to fraction excretion of lithium; gender, age, urinary Na+, urinary uric acid, mean blood pressure, and plasma renin activity were not related. In conclusion, the adducin gene can be considered to be a 'renal hypertensive gene' that modulates the capacity of tubular epithelial cells to transport Na+ and hence contributes to the level of blood pressure. (+info)
Endometrial Phase or Endometrial Cancer Biomarkers - Patent application
Gly Gly Gly Thr Gly Ala Ala 755 760 765 Ala Gly Gly Cys Thr Cys Cys Cys Thr Gly Cys Thr Gly Thr Gly Thr 770 775 780 Thr Thr Ala Thr Gly Cys Ala Ala Thr Gly Gly Cys Thr Cys Ala Gly 785 790 795 800 Gly Cys Cys Cys Thr Thr Gly Thr Gly Ala Ala Gly Thr Gly Cys Cys 805 810 815 Gly Ala Gly Gly Gly Ala Cys Cys Cys Cys Ala Ala Gly Cys Ala Gly 820 825 830 Cys Cys Thr Cys Cys Ala Thr Cys Thr Cys Cys Cys Ala Gly Gly Gly 835 840 845 Cys Ala Thr Gly Gly Thr Cys Cys Ala Thr Cys Cys Cys Cys Ala Gly 850 855 860 Cys Thr Thr Thr Cys Ala Cys Ala Gly Ala Ala Cys Ala Gly Gly Ala 865 870 875 880 Ala Ala Gly Cys Thr Gly Thr Gly Gly Ala Gly Gly Ala Gly Thr Gly 885 890 895 Thr Gly Gly Gly Cys Ala Gly Cys Ala Gly Gly Gly Thr Ala Gly Gly 900 905 910 Ala Ala Thr Gly Gly Ala Thr Ala Thr Ala Gly Cys Cys Cys Thr Thr 915 920 925 Gly Gly Cys Ala Ala Cys Ala Ala Cys Ala Cys Ala Thr Thr Thr Cys 930 935 940 Cys Cys Cys Ala Cys Ala Ala Ala Gly Cys Ala Cys Cys Cys Ala Cys 945 950 955 960 Cys Cys Ala Ala Ala Ala Gly Ala Ala Cys Ala ...
Methionine synthase A2756G and reduced folate carrier1 A80G gene polymorphisms as maternal risk factors for Down syndrome in...
Background: Polymorphisms of genes encoding enzymes involved in folate metabolism have long been hypothesized to be maternal risk factors for Down syndrome, however, results are conflicting and inconclusive.. Aim of the study: To analyze the effect of methionine synthase (MTR) A2756G, and reduced folate carrier (RFC1) A80G gene polymorphisms on the maternal risk for DS.. Patients: This study was conducted in the Medical Genetics Center, Ain-Shams University hospitals, on a total of 170 mothers of children, diagnosed with Down syndrome, who were attending the center. Eighty-five control mothers were also enrolled in the study.. Methods: Genotype analyses were performed using PCR-RFLP to detect RFC1A80G and MTRA2756G gene polymorphisms in all case and control mothers.. Results: Comparing RFC1A80G genotype frequency between both groups revealed, that the frequency of the AA genotype in case mothers (94.11%) is highly significantly (p, 0.001) greater than its frequency in control mothers (74.11%), ...
Apolipoprotein C3 genetic polymorphisms are associated with lipids and coronary artery disease in a Chinese population | Lipids...
A lot of studies have been conducted to examine the association of genetic polymorphism and risk of CAD. A meta-analysis of 9 studies that included 1,700 CAD patients and 4,081 healthy controls suggested that ALDH2 Glu504Lys polymorphism may be associated with increased risk of CAD and myocardial infarction in East Asians, especially among Chinese and Korean populations . A meta-analyses of 26 studies that included 12,776 cases and 6,371 controls found that -1562C,T polymorphism in the promoter region of matrix metalloproteinase-9 may have association with CAD risk in Asian populations . A meta-analyses of 22 studies including 3,502 CAD patients and 3,071 controls suggested that the angiotensin II receptor, type 1 gene A1166C polymorphism might be a genetic marker for the development of CAD in Chinese populations, especially in the context of studies with northern and older subjects [24, 25]. A meta-analyses of 11 studies involving 22,584 subjects showed that PTGS2 -765G/C was associated ...
X-linked repeat polymorphisms and disease risk: statistical power and study designs :: University of Southern California...
The design and analysis of association studies for repeat polymorphisms has received scant attention in the literature. We present an analytical power calculation for studies of such polymorphisms, based on a case-parent design and an X-linked polymorphism. Existing tools for estimating statistical power in family-based studies (such as Quanto) presume categorical codings of autosomal loci. We extend the underlying method to handle quantitative codings of repeat polymorphisms, and discuss the advantages of doing so. Sample sizes for a conditional logistic regression analysis of a sex-linked repeat polymorphism in a case-parent design are presented. Empirical power for quantitative and categorical codings of the same polymorphism with the same sample size in otherwise identical studies are then compared via Monte Carlo simulation. The differences in information to be expected from male and female case-parent, case-sibling, and case-population pairs are discussed. In addition, the effects of ...
The NFKB1 ATTG ins/del polymorphism and risk of coronary heart disease in three independent populations - DTU Orbit
AimInflammation is a risk factor for coronary heart disease (CHD). A common deletion-allele in the promoter region of NFKB1 results in lower protein levels of the NF-κB p50 subunit. Recent evidence suggests that the NF-κB p50 dimer has anti-inflammatory effects. We aimed to investigate the association of the functional ATTG NFKB1 insertion/deletion variant with risk of CHD in three independent prospective studies of generally healthy men and women. Methods and resultsThe NFKB1 ins/del polymorphism was genotyped in studies of CHD nested within the Diet, Cancer and Health (DCH) study, the Health Professionals Follow-up (HPFS) and the Nurses Health (NHS) studies, totaling 1008, 428 and 439 cases, respectively. The minor allele frequency in the combined sample was 0.38 among controls. In a pooled analysis, the relative risk (RR) among heterozygous men and women was 1.22 (95% CI: 1.07-1.40), compared to the most common ins/ins genotype. The RR among homozygotes was 1.20 (95% CI: 0.94-1.53). There ...
3. Role of recombination in shaping the genomic variation of an organism. I study these topics with genomic polymorphism data of Daphnia in my postdoctoral researches. Genetic characteristics found in Daphnia, including strong population structure and existence of sexual and asexual individuals, provide exciting opportunities to investigate the topics. In order to analyze genomic data of an organism generated by the inherently error-prone genomic sequencing, I develop mathematical methods for estimating population parameters, including the population differentiation measure FST and the linkage disequilibrium coefficient D, from genomic polymorphism data under the presence of erroneous sequence reads. Publications ...
DADUN: A novel CYBA variant, the -675A/T polymorphism, is associated with essential hypertension
OBJECTIVE: Oxidative stress is implicated in hypertension and the NADPH oxidase systems constitute the main source of superoxide in vascular wall. We searched for new polymorphisms within the CYBA promoter, the human gene that encodes the p22phox protein, and studied their potential association with essential hypertension. DESIGN: A case-control study in a random sample of the general population. METHODS: CYBA polymorphisms were determined by restriction fragment length polymorphism and allelic discrimination. NADPH oxidase activity was quantified in phagocytic cells by chemiluminescence. RESULTS: We identified three novel polymorphisms, at positions -852, -675 and -536 from the ATG codon. Only the -675(A/T) polymorphism associated with essential hypertension. The prevalence of the TT genotype and the T allele frequency were significantly higher (P < 0.05) in hypertensives than in normotensives. Furthermore, TT hypertensives exhibited higher (P < 0.05) systolic blood pressure values than TA/AA ...
Association of GSTO1 A140D and GSTO2 N142D Gene Variations with Breast Cancer Risk
Background: Polymorphisms in glutathione S-transferase (GST) genes may contribute to breast cancer risk. The aim of this study was to investigate any association of two common GSTO1 A140D and GSTO2 N142D gene polymorphisms with breast cancer risk in an Iranian population followed by a protein structure analysis. Materials and Methods: In the case-control study, 303 subjects comprising 153 women with breast cancer and 150 healthy controls were included. Genotypes of GSTO1 A140D and GSTO2 N142D polymorphisms were assessed by PCR-RFLP. Bioinformatics tools were employed to evaluate the damaging effects of A140D and N142D on the structures of GSTO1 and GSTO2 proteins. Results: Our genetic association study revealed that the GSTO1 A140D polymorphism was associated with breast cancer in a dominant model (OR= 1.75, 95%CI= 1.07-2.86, p= 0.026). Also, the A allele was significantly associated with breast cancer risk (OR= 1.69, 95%CI= 1.09-2.60, p= 0.018). With regard to the N142D polymorphism, there were
Saudi Journal of Medicine and Medical Sciences : Table of Contents
Background: Hemodialysis (HD) patients are at an increased risk of acquiring hepatitis B virus (HBV) infection. Active HBV immunization in these patients is recommended. A response rate in HD patients is variable but generally lower than healthy individuals. Objective: The aim of this study is to assess the response of HD patients to the HBV vaccine and correlate response and long-term immunity to various clinical and biomedical factors. Patients and Methods: One hundred and one patients, with a mean age 48.7 ± 18.5 years, received 40 μg of HBV vaccine administered intramuscularly in the deltoid region at 0, 1, 2 and 6 months. The patients responses to the vaccine were determined by measuring hepatitis B surface antibody (HBsAb) 6 weeks after the last injection and monitored thereafter at 3-month intervals. Results: Seventy-one patients (70.3%) mounted a response with HBsAb ,10 mIU/ml 6 weeks following the fourth dose of vaccine, and thus were considered considered as adequate responders. ...
Genetic Polymorphisms of Selected DNA Repair Genes, Estrogen and Progesterone Receptor Status, and Breast Cancer Risk |...
The results of this study suggest that genetic polymorphisms RAD52 2259C , T, ERCC1 8092C , A and 354C , T, and hMLH1 −93G , A are associated with risk of breast cancer in Korean women. Particularly, the effects of RAD52 2259C , T and ERCC1 354C , T genotypes were evident for the ER−/PR− cases.. Whereas we found an association between the RAD52 2259C , T polymorphism and breast cancer risk, a previous study conducted by Kushel et al. (7) did not, in which only crude ORs were estimated. In the present study, initial crude OR for the RAD52 2259 CT or TT genotype was not significant, either (crude OR, 1.22; 95% CI, 0.95-1.58). Therefore, the discrepancy between these two studies might be partly attributed to the adjustment for other risk factors of breast cancer, in addition to the differences of populations (Caucasian versus Korean) and variant allele frequencies (0.44 versus 0.53).. There may be biological plausibility for our finding of an association between the hMLH1 polymorphism in the ...
COMPOSITIONS AND METHODS FOR RE-PROGRAMMING CELLS WITHOUT GENETIC MODIFICATION FOR TREATMENT OF NEUROLOGICAL DISORDERS -...
721360PRTHomo sapiens 1Met Ala Gly His Leu Ala Ser Asp Phe Ala Phe Ser Pro Pro Pro Gly1 5 10 15Gly Gly Gly Asp Gly Pro Gly Gly Pro Glu Pro Gly Trp Val Asp Pro 20 25 30Arg Thr Trp Leu Ser Phe Gln Gly Pro Pro Gly Gly Pro Gly Ile Gly 35 40 45Pro Gly Val Gly Pro Gly Ser Glu Val Trp Gly Ile Pro Pro Cys Pro 50 55 60Pro Pro Tyr Glu Phe Cys Gly Gly Met Ala Tyr Cys Gly Pro Gln Val65 70 75 80Gly Val Gly Leu Val Pro Gln Gly Gly Leu Glu Thr Ser Gln Pro Glu 85 90 95Gly Glu Ala Gly Val Gly Val Glu Ser Asn Ser Asp Gly Ala Ser Pro 100 105 110Glu Pro Cys Thr Val Thr Pro Gly Ala Val Lys Leu Glu Lys Glu Lys 115 120 125Leu Glu Gln Asn Pro Glu Glu Ser Gln Asp Ile Lys Ala Leu Gln Lys 130 135 140Glu Leu Glu Gln Phe Ala Lys Leu Leu Lys Gln Lys Arg Ile Thr Leu145 150 155 160Gly Tyr Thr Gln Ala Asp Val Gly Leu Thr Leu Gly Val Leu Phe Gly 165 170 175Lys Val Phe Ser Gln Thr Thr Ile Cys Arg Phe Glu Ala Leu Gln Leu 180 185 190Ser Phe Lys Asn Met Cys Lys Leu Arg Pro Leu Leu Gln Lys Trp Val 195 200 205Glu Glu Ala Asp Asn Asn ...
A functional polymorphism in the IL-10 promoter influences the response after vaccination with HBsAg and hepatitis A - Höhler -...
Numerous papers have studied the contribution of cytokine polymorphisms to the course of viral hepatitis.14-17 However, due to the heterogeneity of the studied populations, small sample sizes and ethnic differences results so far have been conflicting. Therefore, we have chosen to perform a prospective vaccination study to investigate the influence of IL-10 promoter polymorphisms on the immune response to HBsAg. Because gender, age, body mass index, and smoking significantly influence HBsAg responsiveness, this prospective approach allows the simultaneous assessment of these known confounders and the investigated IL-10 polymorphisms on HBsAg immune responsiveness. Our data show that the anti-HBs response is strongly influenced by polymorphisms in the IL-10 promoter. Individuals carrying the ACC haplotype had GMTs twice as high as individuals without this haplotype. The effect of the haplotype on the anti-HBs response was stronger than that of the −1082A polymorphism alone. We have previously ...
FPAIG - Performance: Plasminogen Activator Inhibitor-1, 4G/5G Genotyping (PAI-1 Polymorphism)
ESR1 and ESR2 gene polymorphisms are associated with human reproduction outcomes in Brazilian women | Journal of Ovarian...
Important candidate genes involved in the ovarian response to exogenous FSH are the estrogen receptor genes (ESRs), since the effects of estrogens on follicle growth, maturation and oocyte release. It is known that some markers of ovarian stimulation can help to personalize the treatment, adjusting the dose of exogenous rFSH, thus preventing excessive wear of the patient. Inspired on this information we aimed to analyze four different polymorphisms in the estrogen receptor genes ESR1: rs2234693/T-397C (PvuII) and rs9340799/A-351G (Xbal) and ESR2: rs4986938/G1082A (RsaI) and rs1256049/A + 1730G (AluI), and their association with assisted reproduction outcomes in Brazilian women that underwent in vitro fertilization (IVF). A cross-sectional study was performed involving 136 infertile women less than 39 years of age with normal ovarian reserve. Patients were divided according to the same COH protocol for statistical analysis. The Taqman assay was used for PvuII and XbaI of ESR1, and RsaI and AluI of ESR2
ABCB1 C3435T genetic Polymorphism and response to Glibenclamide therapy in patients with type 2 diabetes mellitus |...
Background: Glibenclamide is a substrate and an inhibitor of P-glycoprotein which is coded by the gene ABCB1. The influence of ABCB1C3435T gene polymorphism on the therapeutic effect of glibenclamide and its plasma levels has not been studied. Materials and Methods: The study was done in type 2 diabetes mellitus patients of South India (n=80) who were on treatment with glibenclamide as a single agent or along with metformin. From a venous blood sample, ABCB1 C3435T genetic polymorphism and plasma levels of glibenclamide were determined. The parameters were compared between genotype groups. Patient characteristics across genotypes were analyzed using one way ANOVA and the association between glycemic status and genotype was studied using Chi Square test. The association between genotypes and parameters such as C/D values, hypoglycemic episodes were compared using Kruskal Wallis Test. Results: There were no significant differences in age, body mass index and duration of treatment between the ...
Catalase polymorphism May Influence the Pathogenesis of Diabetes Mellitus
Effect of p53 gene polymorphism on functions of prostate cancer cells | GMR | Genetics and Molecular Research | The Original by...
Prostate cancer cells were transfected with plasmids [empty plasmids, wild-type pcDNA3.1-p53 (V/V), mutant type pcDNA3.1- p53 (G/G)] to analyze the effect of p53 gene polymorphisms on the proliferation, cycle, and apoptosis of prostatic cancer cells. Empty plasmids containing wild-type pcDNA3.1-p53 (V/V) and mutant type pcDNA3.1- p53 (G/G) were used to transfect PC3 and LNCaP cells, respectively. Cell proliferation was detected at 0, 24, 48, and 72 h using the MTT method. Cells were collected at 24 and 72 h.
WO2008088861A2 - Gene polymorphisms predictive for dual tki therapy - Google Patents
The invention provides compositions and methods for determining the likelihood of successful treatment with dual therapy such as lapatinib. The methods comprise determining the genomic polymorphism or expression level of a gene present in a predetermined region of a gene of interest and correlating the polymorphism or expression level to the predictive response. Patients identified as likely responsive are then treated with the appropriate therapy.
VAAL | Specific polymorphism discovery in bacteria using massively parallel sequencing - OMICtools
A package to use massively parallel DNA sequence data to identify differences between bacterial genomes at high sensitivity and specificity. VAAL is a variant ascertainment algorithm which found ~98% of differences (including large indels) between pairs of strains from three species while calling no false positives. During evaluation of the performance on the callable polymorphisms, VAAL shows high sensitivity in finding nearly all of the possible callable polymorphisms.
Numerous published studies have suggested that there surely is association between - Extracellular ATP inhibits chloride...
Numerous published studies have suggested that there surely is association between heme oxygenase-1 (HO-1) gene polymorphisms and cardiovascular system disease (CHD) or restenosis (RS) following percutaneous coronary intervention (PCI). 95%CIValueOR and 95%CIValueOR and 95%CIValue4332347570.915(0.842, 0.995)0.0380.869(0.760, 0.994)0.0410.907(0.788, 1.045)0.1770.958(0.826, 1.110)0.5670.792(0.663, 0.946)0.010 Open up in another window Open up in another window Figure 2 Meta-analysis of the partnership between your (GT)n polymorphism in the HO-1 gene and CHD risk for the recessive model (SS/SL+LL) Open in another window Figure 3 Meta-analysis of the partnership between your (GT)n polymorphism in the HO-1 gene and CHD risk for the dominant model (SS+SL/LL) Open in another window Figure 4 Meta-analysis of the partnership between your (GT)n polymorphism in the HO-1 gene and CHD risk for the co-dominant model (SL/LL) The next subgroup analysis was conducted regarding to ethnicity. The set-results model ...
British Library EThOS: Mechanisms of osteoporosis associated with common allelic variants of the COL1A1 gene
Three single nucleotide polymorphisms (SNP) have been identified in the 5 flank of the COLIA1 gene (-1997G/T; -1663IndelT and +1245G/T) which have been associated with osteoporosis in various populations. The individual polymorphisms were all associated with BMD, but the haplotypes defined by all three SNP showed a stronger association with BMD, biomechanical strength of bone and hip fracture. Two haplotypes increased in frequency with age suggesting an effect on survival. However these haplotypes were particularly enriched in hip fracture patients. Biomechanical testing showed that all three SNPs were strongly associated with reduced bone strength, independently of BMD. Gel shift assays showed that the region surrounding the -1663insdeIT polymorphism recognised the nuclear binding proteins NMP4 and Osterix and the -1663deIT allele had greater binding affinity than -1663insT allele. the region surrounding the -1997 G/T polymorphism also recognised DNA binding proteins but the polymorphism did ...
Polymorphisms in the β2 adrenergic receptor and bronchodilator response, bronchial hyperresponsiveness, and rate of decline in...
ADRB2 polymorphisms occur commonly in the human population and have been associated with a number of asthma phenotypes.8,9,11,12,27-29 The aim of this study was to investigate the association between ADRB2 polymorphisms and BDR, NSBH, and the rate of decline in lung function in smokers. In contrast to results in patients with asthma, we found no association between ADRB2 polymorphisms and either BDR or NSBH. However, there was a significantly lower prevalence of heterozygous Glu27/Gln27 individuals among the smokers with a fast decline in lung function, suggesting a protective effect of this genotype.. Previous association studies of ADRB2 polymorphisms and specific phenotypes related to airway disease and function have been reviewed by Joos et al.30 Despite considerable controversy and conflicting results, the most consistent finding was a relationship between the polymorphism at position 16 and BDR. However, we found no association between BDR and any allele, genotype, or haplotype in this ...
Interethnic differences in the distribution of genetic polymorphisms in drug metabolizing enzymes, targets, receptors, and transporters are very common (22) . For example, the variants in the thiopurine methyltransferase gene showed significant interethnic difference in global populations (22) ; similar findings were observed for a common length polymorphism in the thymidylate synthase 5′ untranslated region (23 , 24) . The population differences in the allelic distribution of EGFR intron 1 (CA)n polymorphism may be attributable to either the natural selection of an advantageous allele by unknown environmental factors or the fixation of allele frequency through a founder effect. Data from many genome-wide polymorphisms in Chinese compared with Caucasians and other populations indicated the contributions of a founder effect and population expansion to allelic population structure (22, 23, 24, 25) .. This population disparity is also an important factor that may contribute to interindividual ...
Association between genetic polymorphisms in AURKA (rs2273535 and rs1047972) and breast cancer risk: a meta-analysis involving...
Published data on the association between AURKA polymorphisms and breast cancer (BC) risk are inconclusive. This meta-analysis was performed to derive a more precise estimation on the relationship between AURKA polymorphisms (rs2273535 and rs1047972) and BC risk. PubMed, Web of Knowledge and Embase were searched for relevant studies. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to estimate the strength of associations. The pooled odds ratios (ORs) with 95% confidence intervals (CIs) were performed for allele contrast genetic model, homozygous genetic model, heterozygote genetic model, dominant model, and recessive model, respectively. A total of 13 studies (16,349 BC patients and 20,872 case-free controls) were involved in this meta-analysis. Meta-analysis showed that there was significant association between rs2273535 and BC risk in three genetic models in the overall population (A vs. T: OR = 1.08, 95% CI = 1.01-1.15, P = 0.02; AA vs. TT: OR = 1.36, 95% CI = 1.06-1.73, P | 0.00001;
The role of insulin resistance candidate gene polymorphisms in susceptibility to type 2 diabetes mellitus in a Polish...
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This is the first case-control study of XPA polymorphisms in relation to lung cancer. In our study, the XPA 23GG genotype was associated with a significantly decreased risk for lung cancer. The protective effects were evident in younger individuals, males, and current smokers. These findings suggest that the XPA A23G polymorphism may contribute to inherited genetic susceptibility to lung cancer.. Because the XPA G709A polymorphism was not detected in cases and controls, we analyzed only the association of the XPA A23G polymorphism with lung cancer risk. The frequency of the XPA 23G allele among the healthy controls in this study was 0.52, which was similar to that (0.57) observed in Polish population (15) .. Although the mechanism responsible for the association between the XPA A23G polymorphism and lung cancer risk remains to be elucidated, several lines of evidence presented herein support the biological plausibility of this association:. (a) The XPA A23G polymorphism had more clear effect on ...
TERT genetic polymorphism rs2736100 was associated with lung cancer: a meta-analysis based on 14,492 subjects
Effects of genetic polymorphisms of MDR1, FMO3 and CYP1A2 on susceptibility to colorectal cancer in Koreans
The aim of the present study was to evaluate the effects on the susceptibility to colorectal cancer (CRC) of genetic polymorphisms in P-glycoprotein (PGP) and the metabolic enzymes cytochrome P450 1A2 (CYP1A2) and flavin-containing monooxygenase 3 (FMO3). We analyzed five single-nucleotide polymorph …
"Genetic polymorphism of murine c3 controlled by a single co-dominant l" by sakai S. Natsuume, J Hayakawa et al.
The roles of stromelysin-1 and the gelatinase B gene polymorphism in stable angina - Fingerprint - Yonsei University
In this study, our purpose was to investigate the role of gene polymorphisms in the promoter of the human BTC gene in type 2 diabetic patients. Because the promoter of the human BTC gene had not been well studied, we initially characterized about 2.3 kb of the 5′-flanking region of the human BTC gene in a pancreatic β-cell line. We then screened gene polymorphisms in this region and found that the G allele of the −226A,G polymorphism was more frequent in type 2 diabetic patients than in nondiabetic subjects. However, the possibility that this result is a false-positive finding should be considered, because the sample size of our case-control analysis is small and the P values obtained are modest (17). Therefore, we further investigated the effect of the −226A,G polymorphism on clinical profiles of patients and the functional properties of all polymorphisms identified. We first examined the relationship between the G allele of the −226A,G polymorphism and insulin secretion ability in ...
Reconfiguring phosphorylation signaling by genetic polymorphisms affects cancer susceptibility
Large-scale sequencing has characterized an enormous number of genetic variations (GVs), and the functional analysis of GVs is fundamental to understanding differences in disease susceptibility and therapeutic response among and within populations. Using a combination of a sequence-based predictor w …
Blunted Cardiac Responses to Receptor Activation in Subjects With Thr164Ile β2-Adrenoceptors | Circulation
We screened 220 volunteers (aged 19 to 32 years; 113 women and 107 men) for the Arg16Gly, Gln27Glu, and Thr164Ile polymorphisms of the β2-AR. All subjects were white and were recruited from the Halle area of Germany. To obtain human genomic DNA, 10 mL of blood were withdrawn into tubes containing EDTA, and DNA was isolated with a commercial DNA isolation kit (Pharmacia Biotech). Genotyping for the Arg16Gly and Gln27Glu polymorphism was performed as described previously6 7 ; genotyping for the Thr164Ile polymorphism was carried out as described by Aynacioglu et al8 with a few alterations: a 280-bp fragment of the coding sequence containing the Thr164Ile polymorphism of the β2-AR gene (GenBank accession No. J02960) was amplified.. Polymerase chain reaction (PCR) conditions were as follows: 100 ng of genomic DNA was added to a solution containing 1 μmol/L forward primer (5′-GTGATCGCAGTGGATCGCTACT-3′), 1 μmol/L reverse primer (5′-AGAGCAAGACCATGATCACCAG-3′), 2.5 mmol/L MgCl2 ...
The IL-1RN and IL-4 gene polymorphisms are potential genetic markers of susceptibility to bladder cancer: a case-control study ...
TIM-3 rs1036199 polymorphism increases susceptibility to autoimmune diseases: evidence based on 4200 subjects | Bioscience...
The results are displayed in Table 2. In the overall analysis, TIM-3 rs1036199 polymorphism was associated with an increased risk of ADs in allelic (G versus T: OR = 1.59, 95%CI: 1.17-2.17, Figure 2A) and heterozygous models (GT versus TT: OR = 1.68, 95%CI: 1.37-2.06, Figure 3A). As shown in Table 2, no significant heterogeneity was found in the heterozygous model (P=0.142, I2 = 33.3%), but slight heterogeneity was found in allele model (P=0.030, I2 = 51.3%). Subsequently, subgroup analysis was conducted by ethnicity, source of control and disease type. When subgroup analysis was performed based on ethnicity, significant correlation was detected between rs1036199 polymorphism and increased risk of ADs in Asian populations (G versus T: OR = 1.76, 95%CI: 1.43-2.18; GT versus TT: OR = 1.82, 95%CI: 1.46-2.28, Figures 2B and 3B), but not in African populations. When results were stratified by source of controls, increased risk of AD was detected in both population-based studies (G versus T: OR = ...
Functional polymorphisms in a candidate gene for atherothrombosis | JACC: Journal of the American College of Cardiology
Conventional risk factors for atherothrombotic vascular disease account for approximately 50% of the total attributable risk burden. This fact has led to aggressive approaches to the identification of alternate determinants of risk with mechanistic rationale. In this expanding era of the human genome, epidemiologists in search of other risk factors have been given a very large set of additional targets, that is, polymorphisms or mutations throughout the genome. A polymorphism is a change in the sequence of a normal or "wild-type" gene that is relatively abundant in a population (i.e., ∼0.5% to 1%); by contrast, a mutation is a change in the sequence of a wild-type gene that is less common. Moreover, mutations often, and polymorphisms on occasion, have been shown to affect the expression or activity of a gene product, thus making their identification important in discerning possible mechanistic determinants of disease.. Atherothrombosis is a polygenic disease and is described as a complex ...
DiVA - Søkeresultat
Tumor Necrosis Factor-alpha (TNF-α) has been implicated in the pathogenesis of insulin resistance and obesity. The increased expression of TNF-α in adipose tissue is known to induce insulin resistance, and a polymorphism at position -308 in the promoter region of TNF-α gene may lead to its increased transcription in adipocytes. The objective of this work was to determine the role of TNFα-308G/A gene polymorphism in metabolic syndrome (MetS) and coronary artery disease (CAD) with obesity and type 2 diabetes mellitus (T2DM). A total of 250 MetS and 224 CAD patients and 214 controls were studied. TNFα-308G/A polymorphism was detected from the whole blood genomic DNA using PCR-amplification refractory mutation system. The 2 × 2 contingency tables and multiple regression analysis were used for determining the association of genotypes with obesity and type 2 diabetes mellitus (T2DM) in MetS and CAD subjects. In CAD subjects with T2DM, the AG genotypes showed a very strong association (P , ...
rs11536889 - SNPedia
Sequence variants in the TLR4 and TLR6-1-10 genes and prostate cancer risk. Results based on pooled analysis from three independent studies. [PMID 20721625] Combined effect of miR-146a rs2910164 G/C polymorphism and Toll-like receptor 4 +3725 G/C polymorphism on the risk of severe gastric atrophy in Japanese. [PMID 20977567] Polymorphism in 3-untranslated region of toll-like receptor 4 gene is associated with protection from hepatitis B virus recurrence after liver transplantation. [PMID 21403649] Association of polymorphisms in the TLR4 gene with the risk of developing neutropenia in children with leukemia. [PMID 21553150] Sequence variants of Toll-like receptor 4 (TLR4) and the risk of prostate cancer in Korean men. [PMID 22661708 ...
GSTs3 are a family of cytosolic enzymes that are potentially important in regulating susceptibility to cancer due to their ability to metabolize reactive metabolites of carcinogens ,(1) . Among them, GSTM1 and GSTT1 have attracted most of the interest (2) , mainly because they are involved in detoxification of reactive metabolites of carcinogenic substances from tobacco smoke (3) . The absence of GSTM1 and GSTT1 enzyme activities in approximately 50% and 20% of Caucasians, respectively, are due to homozygous inherited deletion in the respective genes (null genotype; Refs. 4 and 5 ). Results from the previous studies on larynx cancer risk associated with the GSTM1 phenotype/genotype or the GSTT1 genotype have been inconclusive, and only a moderate increase in risk, if any, was observed (6, 7, 8, 9) . One of the possible reasons of the divergent findings may rely on polymorphisms of other relevant GST genes (10 , 11) .. Recently, polymorphisms in GSTM3 and GSTP1 loci were reported (12 , 13) . In ...
It's a dog, but what kind? (polymorphism , in Perl OO)
I also think the strange use of dog as a factory class to produce subtypes of dogs is a little odd-form from an OO form, and that most OO purists would frown on the eval and use of reflection to pick subclasses. But I come from a very non-Perlish OO background, so this is just my two cents. In conclusion, if we want to call this a tutorial, I say this should be a tutorial on the factory pattern, not a tutorial on polymorphism. Polymorphism is a much more general concept, and we skip over that generality by starting with the factory piece first. I would be interested to see if the factory could be made without using eval, as well...I think it can, especially if the dogs were loaded previously in a more-safe matter. But hey, maybe we dont have to worry about unsafe loading of doggies -- they do allright in the back of a pickup truck usually :) Anyway, cool stuff, just a few ideas thrown out here. *yelp*. ...
Genetic polymorphism | GMR | Genetics and Molecular Research | The Original by FUNPEC-RP
Genetic variations in human interleukin-1 (IL-1) genes are known to be involved in inflammatory disorders. The rs17561 and rs1143634 polymorphisms of IL-1α and IL-1β, respectively, have been increasingly recognized as important regulators in the development of periodontitis. However, the existence of a specific association remains controversial. Therefore, we performed a meta-analysis to explore the relationship between IL-1 polymorphism and periodontitis risk. ...
GW27-e0228 SLCO1B1 polymorphisms have effect on the lipid-lowering efficacy of pitavastatin in Chinese hyperlipemia patients |...
140 Chinese essential hyperlipidemia patients were screened and genotyped for SLCO1B1 521T,C and 388A,G polymorphisms using a tetra-primer amplification refractory mutation system-polymerase chain reaction(ARMS-PCR) and polymerase chain reactio-restrictive fragment length polymorphism (PCR-RFLP). 85 patients were drawn randomly and sequentially received 2mg/d amlodipine for 56 days. The Serum total cholesterol (TC), triglyeride (TG), high-density lipoproteins(HDL) and low-density lipoprotein (LDL) levels were determined at baseline, 28 days and 56 days. ...
The β2-AR is a major lipolytic receptor in human fat cells. With the notion that the β2-AR polymorphisms might play a role in obesity, Large et al. (1997)genotyped 140 women with a large variation in body fat mass. The Glu27 homozygotes had an average fat mass excess of 20 kg (Large et al., 1997, Table 1). Neither allele at the Arg16Gly polymorphism was linked to obesity. An investigation of obese men did not give a similar result (Hellstrom et al., 1999). These findings in women will probably stimulate further work and may be applied to the known interethnic variability in obesity.. The codon 164 threonine/isoleucine polymorphism of β2-AR has not received much attention in humans because of the comparative rarity of the less frequent (isoleucine) allele. To investigate the functional significance of this polymorphism in the myocardium, Turki et al. (1996) prepared transgenic mice expressing 45 times the normal endogenous β2-AR. Mice with the mutant 164 Ile and mice with the wild-type ...
Association between IL-8 genetic polymorphisms and the risk of ovarian cancer in a Chinese population | Abstract
Methylation Polymorphisms Are More Complicated Than MTHFR
ecorn-cf: Question single
Your daughter seems to show the typical clinical picture of CF. A genetic analysis had been done and in addition to the deltaF508, 7T and 9T polymorphisms have been found. Those T tracts in the CFTR gene are called polymorphic tracts, as they can be found in variable length; three to four common alleles may be detected: T5, T7 and T9 and much rarer T3. T7 and T9 are the "normal " variants, not resulting in CF at all. T3 and T5 are the variants, that could lead together with a certain length of a so-called TG repeat to disease symptoms, mostly however, even not to the classical clinical picture but only to mild courses. However, your daughter has the normal length of the T tract with T7 and T9, so this has nothing to do with her CF (probably you read about other polymorphisms, there are many, many others in other places of the CFTR gene, with different clinical impact, however, here we talk about the specific T polymorphism ...
Peter Frost Archive - The Unz Review
A trans-species polymorphism. Some genetic polymorphisms are found in distantly related species, having persisted across multiple speciation events. (source) It is widely known that considerable genetic overlap exists between human populations, even those that are geographically distant from each other and quite different physically. You probably learned in BIO101 that genetic variation is much greater... Read More ...
Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels |...
Angiotensin-converting enzyme insertion/deletion polymorphism and systemic lupus erythematosus: A metaanalysis<...
TY - JOUR. T1 - Angiotensin-converting enzyme insertion/deletion polymorphism and systemic lupus erythematosus. T2 - A metaanalysis. AU - Lee, Young Ho. AU - Rho, Young Hee. AU - Choi, Seong Jae. AU - Ji, Jong Dae. AU - Song, Gwan Gyu. PY - 2006/4. Y1 - 2006/4. N2 - Objective. To explore whether insertion (1) and deletion (D) polymorphisms within intron 16 of the angiotensin-converting enzyme (ACE) gene confer susceptibility to systemic lupus erylhematosus (SLE) and lupus nephritis (LN). Methods. We surveyed studies of ACE 1/D polymorphism and SLE using Medline and manual searches. We conducted a metaanalysis of the DD genotype (recessive effect). DD and D1 genotype (dominant effect), and D allele of the ACE overall and in each ethnic population. We performed a meta-analysis of ACE 1/D polymorphism in SLE and LN. Results. Thirteen comparison studies were included in our metaanalysis consisting of 1411 patients with SLE and 1551 controls. We found no association of ACE 1/D polymorphism with SLE ...
Influence of the ACE gene insertion/deletion polymorphism on insulin sensitivity and impaired glucose tolerance in healthy...
TY - JOUR. T1 - Influence of the ACE gene insertion/deletion polymorphism on insulin sensitivity and impaired glucose tolerance in healthy subjects. AU - Bonnet, Fabrice. AU - Patel, Sheila. AU - Laville, Martine. AU - Balkau, Beverley. AU - Favuzzi, Angela. AU - Monti, Lucilla D.. AU - Lalic, Nebojsa. AU - Walker, Mark. PY - 2008/4. Y1 - 2008/4. N2 - OBJECTIVE- Recent studies suggested that the blockade of the renin-angiotensin system (RAS) may be associated with metabolic benefits. However, data about the potential influence of the ACE insertion/deletion (I/D) genotype on insulin resistance have been contradictory with studies of limited sample sizes. The purpose of this study was to investigate the relationship between the ACE gene I/D polymorphism and both insulin sensitivity and glucose intolerance in a large cohort of healthy subjects. RESEARCH DESIGN AND METHODS- A total of 1,286 participants in the Relationship Between Insulin Sensitivity and Cardiovascular Disease Risk Study had a 75-g ...
Racial Difference in the Relationship of an Angiotensin I-Converting Enzyme Gene Polymorphism to Serum Angiotensin I-...
Results of the present study of white children confirm the previously described association of the ACE gene I/D polymorphism with serum ACE observed in white adults7 : The level of ACE activity was significantly higher in the white children with D alleles than with I alleles, whereas the level of ACE activity was intermediate in those who were heterozygous. On the other hand, in the black children, no association of the I/D polymorphism with serum ACE activity was found. There was thus a distinctly different association of the ACE gene polymorphism with the regulation of serum ACE activity in white and black children. Although in the present study there were fewer black subjects, especially in the II group, for the following reasons we feel that the absence of a significant association in blacks was not secondary to the smaller number of subjects. First, there was a significant interaction of race with the relationship of genotype to serum ACE activity (P=.02). Second, a power analysis indicated ...
Serotonin transporter gene polymorphism and its association with bipolar disorder across different ethnic groups in Malaysia<...
TY - JOUR. T1 - Serotonin transporter gene polymorphism and its association with bipolar disorder across different ethnic groups in Malaysia. AU - Mohamed Saini, Suriati. AU - Nik Jaafar, Nik Ruzyanei. AU - Sidi, Hatta. AU - Midin, Marhani. AU - Mohd Radzi, Azizah. AU - Abdul Rahman, Abdul Hamid. PY - 2014/1. Y1 - 2014/1. N2 - Objectives The risk variants have been shown to vary substantially across populations and a genetic study in a heterogeneous population might shed a new light in the disease mechanism. This preliminary study aims to determine the frequency of the serotonin transporter gene polymorphism (5-HTTLPR) in the three main ethnic groups in Malaysia and its association with bipolar disorder. Methods This is a candidate gene association study of randomly selected forty five unrelated bipolar disorder probands and sixty six controls. Diagnosis was evaluated using the Mini International Neuropsychiatric Interview (M.I.N.I). The control group consisted of healthy volunteers without ...
Carrier-state of D allele in ACE gene insertion/deletion polymorphism is associated with coronary artery disease, in contrast...
Angiotensin I-converting enzyme (ACE), which plays an important role in blood pressure regulation, and methylenetetrahydrofolate reductase (MTHFR) involved in homocysteine metabolism belong to a large group of polypeptides which may be potential risk factors for atherosclerosis and coronary artery disease (CAD). To assess whether polymorphisms of the genes encoding these peptides are associated with CAD in Silesian we conducted a study among 68 individuals suffering from CAD (including 52 cases after myocardial infarction), 51 subjects with positive family history of CAD and 111 controls. We analysed the distribution of genotypes and allele frequencies of the insertion/deletion (I/D) polymorphism in the ACE gene using PCR amplification, and the C677→T polymorphism in the MTHFR gene using PCR-RFLP analysis. We found that D allele frequency was significantly higher in CAD patients (61%) than in controls (43%) (P = 0.001, OR = 2.06). The D allele carriers (DD + ID genotypes) were more frequent in ...
A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and...
TY - JOUR. T1 - A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination. AU - Blouin, J. L.. AU - Christie, D. H.. AU - Gos, A.. AU - Lynn, A.. AU - Morris, M. A.. AU - Ledbetter, D. H.. AU - Chakravarti, A.. AU - Antonarakis, S. E.. PY - 1995. Y1 - 1995. N2 - We have used a half-YAC containing the human chromosome 21 long-arm telomere to clone, map, and characterize a new dinucleotide repeat polymorphism (D21S1575) close to 21qter. This marker is AB - We have used a half-YAC containing the human chromosome 21 long-arm telomere to clone, map, and characterize a new dinucleotide repeat polymorphism (D21S1575) close to 21qter. This marker is UR - http://www.scopus.com/inward/record.url?scp=0029013276&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0029013276&partnerID=8YFLogxK. M3 - Article. C2 - 7668265. AN - SCOPUS:0029013276. VL - 57. SP - 388. EP - 394. JO - American Journal ...
Association between Angiotensin-Converting Enzyme Gene Polymorphisms and Diabetic Nephropathy: Case-Control, Haplotype, and...
In this international, large-scale, multicenter study from three European populations, we combined a family-based approach and a case-control analysis to analyze the role of several polymorphisms in ACE on DN. We found that DN in patients with type 1 diabetes was associated with the studied polymorphisms in this gene. This association was not limited to the ACE I/D polymorphism. Univariate and haplotype analysis suggested that this association was mainly related to the haplotype that carries the ACE_ID D allele.. In the European Rational Approach for the Genetics of Diabetic Complications (EURAGEDIC) program, we used a research strategy that consists of a candidate gene approach with a case-control design combined with a familial transmission analysis. This strategy to analyze trios with DN probands but also trios with non-DN probands was recently presented as relevant for diabetic kidney disease (30). In the studied populations, the risk for any founder effect is small as a result of the ...
Broader Perspective: Genomic polymorphisms trigger phantom limb pain and synesthesia
It turns out that phantom limb pain is related to other anomalies such as synesthesia, a mis-wiring of the senses such that stimulation to one sense results in an experience in another (for example, someone may see Monday as red). In all of these cases, there is an overabundance of neural connections in the brain. Genomic polymorphisms prevent these connections from being pruned normally ...
C2028T polymorphism in exon 12 and dinucleotide repeat polymorphism in intron 13 of the HIF-1alpha gene define HIF-1alpha...
OBJECTIVES: In this study, we investigated whether polymorphisms of the HIF-1alpha gene may account for the patterns of HIF-1alpha protein expression in non-small cell lung carcinomas (NSCLC) and the expression of HIF-1alpha down-stream proteins. METHODS: Specific HIF-1alpha polymorphisms were assessed in a series of patients with NSCLC: (a) the C to T transition at nucleotide 1744 (position 2028 according to sequence with accession number , which gives rise to Pro/Ser variation at codon 582), (b) the G to A nucleotide substitution at point 1790 (position 2046 according to sequence with accession number , which gives rise to Ala/Thr variation at codon 588), and (c) the dinucleotide GT repeat polymorphism in intron 13. Immunohistochemistry for HIF-1alpha and down-stream proteins (VEGF, LDH-5, GLUT-1) was also performed in tumor material. RESULTS: A strong association of the P582S polymorphism and of GT repeat polymorphism higher than 14/14 with increased HIF-1alpha expression was noted. HIF-1alpha
Lack of association of angiotensin-converting enzyme (ACE). Gene insertion/deletion polymorphism with CAD in two Asian...
The Insertion Allele of the ACE Gene I/D Polymorphism | Circulation
Background The insertion/deletion (ID) polymorphism of the angiotensin-converting enzyme (ACE) gene has been associated with increased coronary heart disease (CHD), although the mechanism of this association is not apparent. We tested the hypothesis that the deletion allele of the ACE gene is associated with insulin resistance. Methods and Results We related ACE genotype to components of the insulin-resistance syndrome in 103 non-insulin-dependent diabetic (NIDDM) and 533 nondiabetic white subjects. NIDDM subjects with the DD genotype had significantly lower levels of specific insulin (DD 38.6, ID 57.1, and II 87.4 pmol · L−1 by ANOVA, P=.011). Non-insulin-treated subjects with the DD genotype had increased insulin sensitivity by HOMA % (DD 56.4%, II 29.4%, P=.027) and lower levels of des 31,32 proinsulin (DD 3.3, II 7.6 pmol · L−1, P=.012) compared with II subjects. There were no differences in prevalence of CHD or levels of blood pressure, serum lipids, or plasminogen activator ...
British Library EThOS: Angiotensin Converting Enzyme Insertion/Deletion (ACE I/D) and Methylene Tetrahydrofolate Reductase...
Objectives: The aims of the study were to identify associations between ACE I/D and MTHFR C677T and AAA. Methods: A retrospective case-control study in which polymerase chain reaction (PCR) methodology was employed to identify associations between ACE I/D and MTHFR C677T polymorphisms and AAA. DNA was extracted from reasonably matched cases and controls after suitable screening for group assignment. There were a total of 1352 subjects genotyped for the MTHFR C677T polymorphism comprising 674 controls and 678 cases. Comparative figures for ACE I/D polymorphism genotyping were 812 and 1107, respectively. All statistical analyses were conducted using R programming software with user-written codes. Results: The ACE II, ID and DD genotype distributions in controls (177, 410 and 225) and cases (218, 529 and 270) were in Hardy-Weinberg Equilibrium (HWE), P=0.21.There was no difference in allele ("I" and "D") distributions between cases and controls (odds ratio(OR),1.001; 95% CI, 0.88-1.14; P =0.98). ...
Vitamin D receptor gene polymorphism: Correlation with bone mineral density in a Brazilian population with insulin-dependent...
Patients with insulin-dependent diabetes mellitus (IDDM) are at higher risk of developing osteoporosis. Among the genetic factors related to die development of osteoporosis, a possible association between vitamin D receptor (VDR) gene polymorphism and bone mineral density (BMD) has been described in some populations. We characterized the VDR gene polymorphism in a healthy adult Brazilian population and in a group of patients with IDDM and correlated these findings with densitometric values in both groups. the Brazilian population is characterized by an important racial heterogeneity and therefore is considered an ethnically heterogeneous population. We recruited 94 healthy adult Brazilian volunteers (63 women and 31 men), mean (+/- SD) age 32.4 +/- 6.5 years (range 18-39 years), and 78 patients with IDDM (33 women and 45 men) diagnosed before 18 years of age, mean (+/- SD) age 23.3 +/- 5.5 years (range 18-39 years). VDR genotype was assessed by polymerase chain reaction amplification followed by ...
Genomewide Spatial Correspondence Between Nonsynonymous Divergence and Neutral Polymorphism Reveals Extensive Adaptation in...
The fact that θS and QS respond differently to s is crucial to our ability to infer the rate and strength of adaptive substitutions. Previous attempts to infer these parameters on the basis of θS alone (e.g., Wiehe and Stephan 1993) were unable to distinguish between them because the rate and strength are confounded in their effect on the average polymorphism (Equation 12). Adding the QS statistic allows us to disentangle these parameters, because the minimal polymorphism in a window, which appears in QS, is primarily affected by the rate of adaptive sweeps and not by their strength (see derivation and intuition in materials and methods). This is because the minimal polymorphism in a window is expected to appear in close proximity to the location at which the last adaptive substitution has occurred, where even a relatively weak sweep would have driven the polymorphism to zero. Therefore, at the time the sample is taken, the minimal polymorphism in a window depends primarily on the time that ...
A Promoter Polymorphism of Pri-miR-34b/c Is Associated With an Increased Risk of Breast Cancer | Current Science
P53 can bind to the promoter of miR-34a/b/c, inducing their expression at the transcriptional level. Previous reports have shown that TP-53 and miR-34b/c may play crucial roles in carcinogenesis. We conducted a case-control study to investigate the association between miR-34b/c rs4938723 and TP-53 Arg72Pro polymorphisms and the risk of breast cancer (BC) in Chinese women. We genotyped the two polymorphisms in 228 BC patients and 307 healthy controls using polymerase chain reaction-restriction fragment length polymorphism and DNA sequencing assay. We found that the miR-34b/c rs4938723 CT genotype and C allele were associated with significantly increased risks of BC compared with the TT genotype and T allele (CT vs. TT: OR = 1.81, 95 % CI, 1.24 - 2.65, P = 0.002; C vs. T: OR = 1.36, 95 % CI, 1.06 - 1.74, P = 0.016, respectively). Moreover, a significant association between the cases and controls was also observed in a dominant model (OR = 1.75; 95 % CI, 1.22 - 2.51, P = 0.002). Stratified analysis ...
Associations between restriction site polymorphism and enzyme activity variation for esterase 6 in Drosophila melanogaster. |...
Thirty-five nucleotide polymorphisms were found in a 21.5-kbp region including the Est6 locus among 42 isoallelic lines extracted from a single natural population of Drosophila melanogaster. The heterozygosity per nucleotide pair was estimated to be 0.010 overall, but was lower in sequences hybridizing to transcripts than in those not hybridizing to transcripts. Eleven of 36 pairwise comparisons among the nine most common polymorphisms showed significant gametic disequilibrium. Four of these polymorphisms were also significantly associated with the major EST6-F/EST6-S allozyme polymorphism. Significant disequilibrium was generally restricted to polymorphisms less than 1-2 kbp apart. Previously reported measures of EST6 activity in virgin adult females proved not to be significantly associated with any of the six most common nucleotide polymorphisms located in the Est6 coding region or the 1.5 kbp immediately 5. However, the 11 haplotypes for five of these polymorphisms that lie in the 1.5-kbp ...
PPAR-Gamma Pro12Ala Polymorphism and Gastric Cancer Risk in a Turkish Population | AVESİS
Background: Peroxisome proliferator-activated receptor gamma (PPAR gamma) is a ligand dependent transcription factor involved in various processes, including carcinogenesis. We aimed to investigate any possible association of the PPAR gamma Pro12Ala (rs1801282) polymorphism with risk of developing gastric cancer (GC). Patients and Methods: A hospital based case control study was designed covering 50 patients with GC and 120 healthy controls. The frequencies of PPAR gamma Pro12Ala (rs1801282) were determined using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. Results: The Ala12 allele of the PPAR gamma Pro12Ala G gene was associated with a 1.95 fold increased risk of GC development (p: 0.022; 95% CI: 1.58-2.40). Subgroup analyses showed that the same allele was also associated with metastasis (p: 0.000; OR: 4.09; 95% CI: 2.273-7.368) and differentiation (p: 0.004; OR: 1.95; 95% CI: 1.335-2.875) in patients with GC. Conclusion: This study suggests that the ...
Epistasis is the sensation whereby a single polymorphisms influence on a | Beneficial Effects of RAF Inhibitor i
Epistasis is the sensation whereby a single polymorphisms influence on a characteristic depends upon other polymorphisms within the genome. Right here we present that, using advanced computation10 and a gene appearance study style, many cases of epistasis are located between common one nucleotide polymorphisms (SNPs). Within a cohort of 846 people 1062169-56-5 manufacture with 7339 gene appearance levels assessed in peripheral bloodstream, we discovered 501 significant pairwise connections between common SNPs influencing the appearance of 238 genes (< 2.91 10?16). Replication of the connections in two indie data pieces11,12 demonstrated both concordance of path of epistatic results (= 5.56 10?31) 1062169-56-5 manufacture and enrichment of relationship < 0.05/501. Forty-four from the hereditary connections can be found within 2Mb of parts of known physical chromosome connections13 (= 1.8 10?10). Epistatic systems of three SNPs or even more impact the appearance degrees of 129 genes, whereby one ...
DD ACE gene polymorphism is associated with increased coronary artery endothelial dysfunction: the PREFACE trial | Heart
Perticone and colleagues used forearm strain gauge plethysmography to assess endothelial function in patients with never-treated hypertension.3 They observed an association between the DD genotype and endothelial dysfunction. In the normotensive control group, however, no association was present. This led them to the conclusion that the ACE polymorphism did not provide the most important component of endothelial dysfunction. Contrary to these results were the findings of Butler and colleagues4 who demonstrated an association between the insertion/deletion and endothelial function in healthy young men.. To our knowledge there are no previous reports on the relation between ACE polymorphism and in vivo epicardial coronary endothelial function. Our results agree with the forearm findings of Butler and colleagues.4 We found an association between the DD genotype and deteriorated endothelial function in both normal and dilated coronary artery segments in patients with few risk factors. The dominant ...
The combination of tumour necrosis factor-alpha-308A and interleukin-10-1082G gene polymorphisms and increased serum levels of...
Association between Insertion/Deletion Polymorphism of ApoB Gene with Dyslipidemia and Obesity Risk in Patients with Type 2...
The rs738409 polymorphism of the PNPLA3 gene is associated with hepatic steatosis and fibrosis in Brazilian patients with...
This study assessed the influence of the rs738409 polymorphism of the PNPLA3 gene on hepatic steatosis and the degree of fibrosis among individuals diagnosed with chronic hepatitis C and observed that the prevalence rates of genotypes CC, CG, and GG of the PNPLA3 polymorphism were 45.9%, 21.7%, and 32.4%, respectively. We also observed that the GG genotype of the same polymorphism was associated with steatosis and advanced fibrosis. We also found an association between TM6SF2 polymorphism and advanced fibrosis. Our additional analysis reinforced the finding that the carriers of the rs847309 polymorphism genotype GG of the PNPLA3 gene are at increased risk of developing hepatic steatosis.. The influence of the rs738409 polymorphism on liver fat deposition was initially demonstrated in patients with NAFLD [5, 15, 16]. Sookoian et al.  also described the association between the polymorphism and fibrosis intensity, including nonalcoholic steatohepatitis. Later, this polymorphism was revealed to ...
A Survey of Genomic Properties for the Detection of Regulatory Polymorphisms
Author SummaryComputational techniques are used in biology to prioritize DNA sequence variants (or polymorphisms) that may be responsible for population diversity and the manifestation of species-specific traits. Predominantly, they have been used to predict the class of polymorphisms that alter protein function through allele-specific changes to amino acid composition. However, polymorphisms that alter gene expression have been increasingly implicated in manifestation of similar traits. Prioritization of these polymorphisms is challenged, though, by the lack of knowledge regarding the mechanisms of gene regulation and the paucity of characterized regulatory polymorphisms. Our work attempts to address this issue by assembling a collection of regulatory polymorphisms from the existing literature. Furthermore, we use this collection to investigate and prioritize various properties that may be important for identifying novel regulatory polymorphisms.
Gln223Arg polymorphism in the Caucasian population and Pro1019Pro polymorphism in the Chinese population are risk factors for...
Discussion. In this study, we performed a meta-analysis to assess the correlation between leptin receptor Gln223Arg and Pro1019Pro polymorphisms and OSAS risk. The distributions of cases and controls were not indicated in the original data; however, the p value (0.234) and the numbers of patients and controls were mentioned in the original articles. We deduced the possible number by Fishers exact test.24 The results are shown in Table 2. The analysis revealed no correlation between Gln223Arg polymorphisms and OSAS risk; whereas, Pro1019Pro polymorphisms are associated with OSAS risk in the Chinese population. In addition, five different models (Allele, Dominant, Heterozygote, Homozygote and Recessive) were performed in all SNPs. A subgroup analysis by ethnicities was also performed. Our results indicate that there is no significant correlation between Gln223Arg allele and OSAS risk. However, a significant correlation with OSAS risk in the Caucasian population, but not in the Chinese population, ...
Common germline polymorphisms associated with breast cancer-specific survival<...
TY - JOUR. T1 - Common germline polymorphisms associated with breast cancer-specific survival. AU - Pirie, Ailith. AU - Guo, Qi. AU - Kraft, Peter. AU - Canisius, Sander. AU - Eccles, Diana M.. AU - Rahman, Nazneen. AU - Nevanlinna, Heli. AU - Chen, Constance. AU - Khan, Sofia. AU - Tyrer, Jonathan. AU - Bolla, Manjeet K.. AU - Wang, Qin. AU - Dennis, Joe. AU - Michailidou, Kyriaki. AU - Lush, Michael. AU - Dunning, Alison M.. AU - Shah, Mitul. AU - Czene, Kamila. AU - Darabi, Hatef. AU - Eriksson, Mikael. AU - Lambrechts, Dieter. AU - Weltens, Caroline. AU - Leunen, Karin. AU - van Ongeval, Chantal. AU - Nordestgaard, Børge G.. AU - Nielsen, Sune F.. AU - Flyger, Henrik. AU - Rudolph, Anja. AU - Seibold, Petra. AU - Flesch-Janys, Dieter. AU - Blomqvist, Carl. AU - Aittomäki, Kristiina. AU - Fagerholm, Rainer. AU - Muranen, Taru A.. AU - Olsen, Janet E.. AU - Hallberg, Emily. AU - Vachon, Celine M. AU - Knight, Julia A.. AU - Glendon, Gord. AU - Mulligan, Anna Marie. AU - Broeks, ...
Polymorphisms in the epidermal growth factor receptor gene and the risk of primary lung cancer: a case-control study | BMC...
Polymorphisms in Epidermal Growth Factor Receptor (EGFR) gene may influence EGFR production and/or activity, thereby modulating susceptibility to lung cancer. To test this hypothesis, we investigated the association between polymorphisms in the EGFR gene and the risk of lung cancer in a Korean population. We first examined the frequencies of 39 candidate polymorphisms in the EGFR gene in 27 healthy Korean individuals. After then, we genotyped five polymorphisms (127378C|T, 142285G|A, 162093G|A, 181946C|T and 187114T|C) that have variant allele frequencies greater than 10%, in 582 lung cancer patients and in 582 healthy controls. Of the 5 polymorphisms, the 181946C|T genotype distribution was significantly different between the cases and controls (P = 0.04). Compared with the 181946 CC + CT genotype, the 181946 TT genotype was associated with a significantly decreased risk of lung cancer (adjusted OR = 0.63, 95% CI = 0.45-0.88, P = 0.007). When the analyses were stratified by smoking status, the
Cytokine gene polymorphisms in multiple sclerosis: A meta-analysis of 45 studies including 7379 cases and 8131 controls
Many environmental and genetic factors have been implicated in the development of multiple sclerosis. However, the aetiology has not been clarified yet. Therefore, using a meta-analytic approach, we tried to probe the potential association between various cytokine gene polymorphisms and the occurrence of multiple sclerosis. A comprehensive literature search yielded 45 eligible studies, which involved 7379 cases and 8131 controls. Totally, the effect of eight polymorphisms, i.e. IL-1A C[-889]T, IL-1B C[-511]T, IL-1B CT, IL-4 CT, IL-10 C[-819]T, IL-10G[-1082]A, tumour necrosis factor-a (TNFA) G[-308]A and TNFA G[-238]A, was evaluated in a random-effects meta-analysis. There was no evidence of statistically significant association between the aforementioned polymorphisms and multiple sclerosis. Publication bias and heterogeneity were absent in most analyses. Within its limitations, the current literature-based meta-analysis does not indicate that specific polymorphic variations of genes ...
"CONTRASTING EFFECTS OF AN MDM2 FUNCTIONAL POLYMORPHISM ON TUMOR PHENOT" by Guadalupe J. Ortiz IV
Cancer predisposition by the cooperation of genetic variants, such as single nucleotide polymorphisms (SNPs), may be of much greater significance to public health than previously appreciated. Functional polymorphisms are genetic variants that alter gene function. Meta-analyses associate many functional polymorphisms with cancer risk. The MDM2 SNP309G allele is a cancer-associated functional polymorphism positioned in the MDM2 P2 promoter that enhances transcription factor SP1 binding, resulting in elevated levels of MDM2 concomitant with decreased p53 tumor-suppressor activity. Mdm2SNP309G/G mice are more prone to spontaneous tumor formation than Mdm2SNP309T/T mice, providing direct evidence for the impact of this SNP on tumor development. We examined the impact of SNP309 on cancer risk in response to environmental factors by treating SNP309 mice with ionizing radiation, UVB, or Benzo(a)pyrene. The results show that SNP309G cooperates with ionizing radiation to exacerbate tumor development.
Genetic Polymorphism of CYP2C19 & Therapeutic Response to Proton Pump Inhibitors - Redorbit
By Chaudhry, A S Kochhar, R; Kohli, K K Proton pump inhibitors (PPIs) are extensively metabolized in the liver by CYP2C19, that demonstrates genetic polymorphism with 21 mutant alleles. The subjects can be divided into 2 groups with respect to CYP2C19 phenotypes viz., extensive metabolizers (EMs) and poor metabolizers (PMs) of PPIs. This division results in marked interindividual variations in the pharmacokinetics and pharmacodynamics of PPIs in the population. Intragastric pH values and the plasma concentration of PPIs after oral ingestion were significantly lower in EMs namely normal homozygotes (CYP2C19*1/*1) and heterozygotes (CYP2C19*1/*X) compared to PMs namely mutant homozygotes (CYP2C19*X/*X) where X represents the mutant allele. Hence, association has been found between the genetic polymorphism of CYP2C19 and therapeutic response to PPIs. CYP2C19 polymorphism affected eradication of Helicobacter pylori using diferent PPI based eradication therapies as PM patients demonstrated ...
Association between Single Nucleotide Polymorphisms in Vitamin D Receptor Gene Polymorphisms and Permanent Tooth Caries...
Viruses | Free Full-Text | Correlation of Naturally Occurring HIV-1 Resistance to DEB025 with Capsid Amino Acid Polymorphisms
DEB025 (alisporivir) is a synthetic cyclosporine with inhibitory activity against human immunodeficiency virus type-1 (HIV-1) and hepatitis C virus (HCV). It binds to cyclophilin A (CypA) and blocks essential functions of CypA in the viral replication cycles of both viruses. DEB025 inhibits clinical HIV-1 isolates in vitro and decreases HIV-1 virus load in the majority of patients. HIV-1 isolates being naturally resistant to DEB025 have been detected in vitro and in nonresponder patients. By sequence analysis of their capsid protein (CA) region, two amino acid polymorphisms that correlated with DEB025 resistance were identified: H87Q and I91N, both located in the CypA-binding loop of the CA protein of HIV-1. The H87Q change was by far more abundant than I91N. Additional polymorphisms in the CypA-binding loop (positions 86, 91 and 96), as well as in the N-terminal loop of CA were detected in resistant isolates and are assumed to contribute to the degree of resistance. These amino acid changes may
Interleukin-17 Serum Levels and TLR4 Polymorphisms in Ulcerative Colitis
Background: Inflammatory bowel disease, an autoimmune disease, has two clinical manifestations including Crohns disease and ulcerative colitis (UC). IL-17 has been the target of intensive research in autoimmune diseases. The influence of Toll like receptor 4 (TLR-4) gene polymorphisms on IL-17 production has also been revealed in UC patients and tissue inflammation in mice. Objectives: To investigate the association between the TLR-4 gene polymorphisms, Asp299Gly and Thr399Ile and IL-17 serum levels with ulcerative colitis. Additionally, we aimed to study modulation effects of forenamed gene polymorphisms on IL-17 serum levels in UC patients and controls. Methods: A total of 256 healthy controls and 85 UC patients enrolled in our study. DNA was extracted and PCR-RFLP technique was employed to determine Asp299Gly and Thr399Ile polymorphisms in TLR-4 gene and IL-17 serum levels were measured by ELISA method. Results: There was no significant difference between the frequency of Asp299Gly A|G and Thr399Ile
Restriction fragment length polymorphism Synonyms, Restriction fragment length polymorphism Antonyms | Thesaurus.com
Association between Interleukin-18 Polymorphisms and Hepatocellular Carcinoma Occurrence and Clinical Progression [Abstract]
Abstract. We investigated the association between interleukin-18 (IL-18) polymorphisms and the susceptibility and clinicopathological state of hepatocellular carcinoma (HCC). In total, 901 participants, including 559 healthy controls and 342 patients with HCC, were recruited. The allelic discrimination of -607A/C (rs1946518) and -137G/C (rs187238) polymorphisms of IL-18 was assessed through real-time polymerase chain reaction by performing the TaqMan assay. The IL-18 -137G/C polymorphism but not the -607A/C polymorphism showed a significant association with the risk of HCC. Participants carrying the IL-18 -137 polymorphism with heterozygous G/C and homozygous CC genotypes showed a 1.987-fold increase (95% CI = 1.301-3.032; p = 0.001) in the risk of HCC compared with those homozygous for wild-type G/G. The 342 patients with HCC carrying the IL-18 -137G/C polymorphism were positive for hepatitis B virus (HBV) infection with an adjusted odds ratio of 1.668. Moreover, the 142 HBV positive patients ...
Meta-Analysis of Adiponectin Polymorphisms and Colorectal Cancer Risk [Abstract]
Abstract. Objective The adiponectin gene (ADIPOQ) has been suggested to be associated with the pathogenesis of colorectal cancer (CRC). However, the results have been inconsistent. In this study, we performed a meta-analysis to investigate the association between adiponectin polymorphisms and CRC risk.. Methods All eligible case-control studies published up to March 2013 were identified by searching PubMed, Web of Science and CNKI. Effect sizes of odds ratio (OR) and 95% confidence interval (95% CI) were calculated by using a fixed- or random-effect model.. Results A total of 9 case-control studies were included, Of those studies, there were eight studies (2024 cases and 2777 controls) for rs1501299G/T polymorphism, five studies (1401 cases and 1691 controls) for rs2241766T/G polymorphism, five studies (2945 cases and 3361 controls) for rs266729C/G polymorphism, three studies (1221 cases and 1579 controls) for rs822395A/C polymorphism and three studies (1222 cases and 1575 controls) for ...
Impact of XRCC1 Arg399Gln polymorphism on ovarian cancer risk in Serbian women | OncologyPRO
The distribution of genotypes for Arg399Gln XRCC1 polymorphism in ovarian cancers vs. controls was: 58.0% vs. 38.5% for Arg/Arg, 32.0% vs. 26.9% for Arg/Gln, and 10.0% vs. 34.6% for Gln/Gln genotype, respectively. We found that XRCC1 Arg allele is associated with ovarian cancer risk (OR= 2.635 for Arg vs. Gln with 95% CI of 1.526 to 4.550). The Arg allele exerts its effect on increased risk for ovarian cancer development in dominant model (Arg/Arg plus Arg/Gln vs. Gln/Gln) with OR (and 95 % CI) of 4.765 (1.692 to 13.414) as well as in recessive model (Arg/Arg vs. Arg/Gln plus Gln/Gln) with OR (and 95 % CI) of 2.210 (1.072 to 4.555). ...
Microsomal epoxide hydrolase polymorphisms and lung cancer risk: A quantitative review<...
TY - JOUR. T1 - Microsomal epoxide hydrolase polymorphisms and lung cancer risk. T2 - A quantitative review. AU - Lee, Won Jin. AU - Brennan, Paul. AU - Boffetta, Paolo. AU - London, Stephanie J.. AU - Benhamou, Simone. AU - Rannug, Agneta. AU - To-Figueras, Jordi. AU - Ingelman-Sundberg, Magnus. AU - Shields, Peter. AU - Gaspari, Laura. AU - Taioli, Emanuela. PY - 2002. Y1 - 2002. N2 - To investigate the role of microsomal epoxide hydrolase (mEH) polymorphisms in the aetiology of lung cancer and to assess the interaction between mEH polymorphisms and smoking, we performed a meta-analysis of seven published studies, which included 2078 cases and 3081 controls, and a pooled analysis of eight studies (four published and four unpublished at that time) with a total of 986 cases and 1633 controls. The combined meta-analysis odds ratios (ORs) were 0.98 (95% confidence interval [CI] = 0.72-1.35) for polymorphism at amino acid 113 in exon 3 (His/His versus Tyr/Tyr genotype) and 1.00 (95% CI = 0.71-1.41) ...
Human Leukocyte antigen -G is an immunosuppressive protein with multiple functions. The 14bp insertion / deletion in exon-8 of HLA-G gene have been shown to play an important role in HLA-G mRNA stability as well as expression level; and can be correlated with its immunosuppressive function. The role of HLA-G in various cancers has already been demonstrated. Cancerous cells start expressing HLA-G which in turn provides a shield for various immune responses. In the present study we have tested the possibility of the role of 14bp insertion / deletion polymorphism of HLA-G in cancer progression and susceptibility. We have genotyped 59 cancer samples (26 benign and 33 malignant) and 79 matched controls for 14bp polymorphism of HLA-G. Data showed increase of +14bp/-14bp and −14bp/-14bp genotype with both benign and malignant cancer. We observed significantly higher frequency of +14bp/+14bp genotype in control (p=0.01). This is consistent with both benign and malignant tumors as well as cancer types ...
Genetic polymorphism. p17-25. MIT Press 1965. Joron M, Papa R, Beltrán M, et al. (2006). "A conserved supergene locus controls ... ISBN 0-19-530761-5 Mallet J.; Joron M. (1999). "The evolution of diversity in warning color and mimicry: polymorphisms, ... Genetics home reference (2006), genetic conditions illustrations, National Library of Medicine. Morgan T.H. 1910. Sex-limited ...
Genetic polymorphism. Faber & Faber, London. Kenrick, D.T.; Sadalla, E.K.; Groth, G.; Trost, M.R. (1990). "Evolution, traits, ... Polymorphisms, such as gender and blood type, are forms of diversity which evolve to benefit a species as a whole. The theory ... genetic influence on personality. The human genome is known to play a role in the development of personality. Previously, ... One study measuring genetic influence on twins in five different countries found that the correlations for identical twins were ...
ISBN 0-03-025982-7. Ford, E.B. (1965). Genetic polymorphism. London: Faber & Faber. ISBN 0262060124. Dunn, Casey W.; Wagner, ... Polymorphism refers to the occurrence of structurally and functionally more than two different types of individuals within the ... Miller, D.J.; Ball, E.E. & Technau, U. (October 2005). "Cnidarians and ancestral genetic complexity in the animal kingdom". ...
Genetic polymorphism. All Souls Studies, Faber & Faber, London Fisher R.A. 1930. Genetical theory of natural selection p80. ... The evolution of genetic diversity. Proc Roy Soc B. 205, 453-474. [a general review] Currey J.D. and Cain A.J. 1968. Climate ... The evolution of genetic diversity. Proc Roy Soc B. 205, 453-474. Cain A.J. 1954. Animal species and their evolution. ... New data on the genetics of polymorphism in the snail Cepaea nemoralis. Genetics 45, 393-411. Cain A.J. and Provine W.B. 1991. ...
E. B. Ford
E.B. Ford worked for many years on genetic polymorphism. Polymorphism in natural populations is frequent; the key feature is ... He was the first to describe and define genetic polymorphism, and predicted that human blood group polymorphisms might be ... That is a typical genetic mechanism for causing this type of polymorphism. The work involves a synthesis of field observations ... By the time Ford had developed his formal definition of genetic polymorphism, Fisher had got accustomed to high selection ...
Ford, E. B. (1965). Genetic polymorphism. Oxford University Press. p. 11. Gullan & Cranston (2005). "Polymorphism and ... Genetic polymorphism and natural selection give rise to otherwise edible species (the mimic) gaining a survival advantage by ... seasonal polymorphism or polyphenism). In some species, the polymorphism is limited to one sex, typically the female. This ... Polymorphism is the appearance of forms or "morphs", which differ in color and number of attributes within a single species. In ...
Genetic polymorphism, p17-25. MIT Press 1965. Ford E.B. 1975. Ecological genetics. 4th ed, Chapman & Hall. London. Detlefsen J. ... For example, pin and thrum morphs of Primula have effects on genetic compatibility (pin style x thrum pollen, or thrum style x ... A supergene is a group of neighbouring genes on a chromosome which are inherited together because of close genetic linkage and ... The case for the accumulative origin for supergenes was originally based on the work of Nabours on polymorphism for colour and ...
Genetic Polymorphism and Neomutationism. Evolutionary Dynamics of Genetic Diversity. Springer. pp. 214-241. doi:10.1007/978-3- ... In the view of the historian of science Peter J. Bowler, De Vries used the term to mean large-scale genetic changes capable of ... The different forms existed in a stable polymorphism controlled by 2 Mendelian factors (genes). The alleles of these genes were ... Muller, Hermann Joseph (1918). "Genetic Variability, Twin Hybrids and Constant Hybrids, in a Case of Balanced Lethal Factors" ( ...
In this way genetic polymorphism is conserved. Evidence for balancing selection can be found in the number of alleles in a ... Genetic polymorphism, p26, Heterozygous advantage. MIT Press 1965. Cain A.J. and Currey J.D. Area effects in Cepaea. Phil. ... Polymorphisms maintained by this mechanism are balanced polymorphisms. Due to unexpected high frequencies of heterozygotes, and ... Polymorphism in Cepaea: a problem with too many solutions. Annual Review of Ecology and Systematics 8, 109-143. Cook L.M. 1998 ...
... genetic polymorphism and speciation". Genetics. 170 (1): 1-4. PMC 1449701 . PMID 15914771. ... Selective breeding to produce high-yielding crops has caused genetic bottlenecks in these crops and has led to genetic ... Comparative genetic study confirms exceptionally low genetic variation in the ancient and endangered relictual conifer, ... "Dating the genetic bottleneck of the African cheetah" (PDF). Proc Natl Acad Sci U S A. 90: 3172-6. Apr 1993. doi:10.1073/pnas. ...
Research into the genetic polymorphism indicates that PGP is likely determined by three alleles at a single autosomal locus, ... Barker, R. F.; Hopkinson, D. A. (1978-10-01). "Genetic polymorphism of human phosphoglycolate phosphatase (PGP)". Annals of ... Initial research has also shown appreciable genetic variation indicated by the detection of 6 phenotypes within a small ...
Lokki, Juhani; Esko Suomalainen; Anssi Saura; Pekka Lankinen (1975-03-01). "Genetic Polymorphism and Evolution in ... The genetic composition of the offspring depends on what type of apomixis takes place. When endomitosis occurs before meiosis ... The offspring having all of the mother's genetic material are called full clones and those having only half are called half ... In some of the eggs fertilized by males, however, the fertilization can cause the female genetic material to be ablated from ...
Complement factor I
Genetic polymorphism in Factor I has been observed and recently explained in terms of variants R201S, R406H, R502L. Crystal ... Nakamura S, Abe K (1985). "Genetic polymorphism of human factor I (C3b inactivator)". Human Genetics. 71 (1): 45-8. doi:10.1007 ... polymorphism: one of two polymorphic suballeles responsible for CFI A is Japanese-specific". Journal of Human Genetics. 53 (11- ... "A hypervariable STR polymorphism in the complement factor I (CFI) gene: Asian-specific alleles". International Journal of Legal ...
Kishi K, Yasuda T, Awazu S, Mizuta K (1989). "Genetic polymorphism of human urine deoxyribonuclease I". Hum. Genet. 81 (3): 295 ... 1995). "The molecular basis for genetic polymorphism of human deoxyribonuclease I: identification of the nucleotide ... identification of the nucleotide substitution that generates its classical genetic polymorphism". Ann. Hum. Genet. 59 (Pt 1): 1 ... 1999). "A new allele, DNASE1*6, of human deoxyribonuclease I polymorphism encodes an Arg to Cys substitution responsible for ...
Sinaloan pocket mouse
Color Polymorphism Coat color is a genetic polymorphism. Many different coat colors are seen between species of pocket mice and ... Genetic Basis The genetic difference for varying coat colors is controlled largely by two proteins in pocket mice: eumelanin ... doi:10.1641/0006-3568(2005)055[0125:tasoci]2.0.co;2. Nachman MW, Hoekstra HE, D'Agostino SL (April 2003). "The genetic basis of ... Geographic variation between environments is another selective pressure that helped color polymorphism evolve between pocket ...
Pharmacology of antidepressants
Human CYP2C9 has been shown to exhibit genetic polymorphism. In addition to the wild-type protein CYP2C9*1, at least 32 single ... The role of the CYP2C9-Leu359 allelic variant in the tolbutamide polymorphism， Pharmacogenetics. 1996 Aug; 6(4):341-9 Molecular ... nucleotide polymorphisms (SNPs) have been reported within the coding region of the CYP2C9 gene producing the variant allozymes ...
The genetic basis of the polymorphism is still unknown; however, studies have shown a difference in mate selection in different ... Polymorphism can be seen in the adults as one is white-banded and another is yellow-banded. Both of these morphs have a median ... Emmel, Thomas C. (1972). "Mate Selection and Balanced Polymorphism in the Tropical Nymphalid Butterfly, Anartia fatima". ...
"A Genetic Variant BDNF Polymorphism Alters Extinction Learning in Both Mouse and Human". Science. 327 (5967): 863-866. doi: ... "Genetic Variant BDNF (Val66Met) Polymorphism Alters Anxiety-Related Behavior". Science. 314 (5796): 140-143. doi:10.1126/ ... Rs6265, also called Val66Met or G196A, is a gene variation, a single nucleotide polymorphism (SNP) in the BDNF gene that codes ... Well over a hundred research studies have examined the polymorphism. A number of studies have examined the role of this ...
Human CYP2C9 has been shown to exhibit genetic polymorphism. In addition to the wild-type protein CYP2C9*1, at least 30 single ... "Genetic Variations of CYP2C9 in 724 Japanese Individuals and Their Impact on the Antihypertensive Effects of Losartan". ... nucleotide polymorphisms (SNPs) have been reported within the coding region of the CYP2C9 gene producing the variant allozymes ...
Zhang Y, Si D, Chen X, Lin N, Guo Y, Zhou H, Zhong D (July 2007). "Influence of CYP2C9 and CYP2C19 genetic polymorphisms on ... Genetic polymorphism (mainly CYP2C19*2, CYP2C19*3 and CYP2C19*17) exists for CYP2C19 expression, with approximately 3-5% of ... Desta Z, Zhao X, Shin JG, Flockhart DA (2002). "Clinical significance of the cytochrome P450 2C19 genetic polymorphism". ... Meier UT, Meyer UA (December 1987). "Genetic polymorphism of human cytochrome P-450 (S)-mephenytoin 4-hydroxylase. Studies with ...
"Clinical Significance of the Cytochrome P450 2C19 Genetic Polymorphism". Clinical Pharmacokinetics. 41 (12): 913-958. doi: ... suggested a prenatal genetic test for Thalassemia that did not rely upon DNA sequencing-then in its infancy-but on restriction ... Some patients possess polymorphisms in specific places on the 2C19 gene that make poor metabolisers of those drugs; physicians ... Genetic testing is ethically complex: patients may not want the stress of knowing their risk. In countries without universal ...
Pseudogene amorph Genetic deletion RecLOH Unique-event polymorphism Peter., Snustad, D. (2012). Genetics. Simmons, Michael J. ( ... A genetic null allele can be a protein and RNA null, but can also express normal levels of a gene product that is non- ... A null allele is a nonfunctional copy of a gene caused by a genetic mutation. This mutation can cause complete lack of ... Divergence from the reference sequences (from genetic mutations) results in poor annealing of the primers so that the marker ...
人類基因組 - 维基百科，自由的百科全
Type 2 diabetes
Main article: Genetic causes of type 2 diabetes. Most cases of diabetes involve many genes, with each being a small contributor ... More than 36 genes and 80 single nucleotide polymorphisms (SNPs) had been found that contribute to the risk of type 2 diabetes. ... The development of type 2 diabetes is caused by a combination of lifestyle and genetic factors. While some of these ... increases the risk of developing diabetes by 1.5 times and is the greatest risk of the common genetic variants. Most of the ...
Elastina - Wikipédia, a enciclopédia livre
2009). «Association of genetic variants with chronic kidney disease in individuals with different lipid profiles». Int. J. Mol ... 2009). «Lack of Association of Polymorphisms in Elastin With Pseudoexfoliation Syndrome and Glaucoma». Journal of glaucoma. 19 ... 2010). «Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease». Gastroenterology. 139 (1): ... 2010). «Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous ...
Genetic analysis has shown that certain mallards appear to be closer to their Indo-Pacific relatives while others are related ... "Global lack of flyway structure in a cosmopolitan bird revealed by a genome wide survey of single nucleotide polymorphisms". ... Owing to their highly 'malleable' genetic code, mallards can display a large amount of variation, as seen here with this ... Mallards are causing severe "genetic pollution" to South Africa's biodiversity by breeding with endemic ducks even though ...
... can be a feature of rare genetic disorders such as Apert's syndrome. Severe acne may be associated with XYY syndrome.[ ... The 308 G/A single nucleotide polymorphism variation in the gene for TNF is associated with an increased risk for acne. ... "TNF-308 G/A polymorphism and risk of acne vulgaris: a meta-analysis". PLOS One (Systematic Review & Meta-Analysis). 9 (2): ...
In cultured mammalian cells, such as the Chinese hamster ovary cell line, a number of genetic loci are present in a functional ... Nucleotide diversity measures polymorphisms on the level of nucleotides rather than on level of loci. ... As discussed above, "zygosity" can be used in the context of a specific genetic locus (example). In addition, the word " ... "zygosity" may also be used to describe the genetic similarity or dissimilarity of twins. Identical twins are monozygotic, ...
Category:DNA - Simple English Wikipedia, the free encyclopedia
The genetic network logic responds to signals received from the environment and from internal cell status sensors to adapt the ... and insertion/deletion polymorphisms at five chromosomal loci. C. crescentus is synonymous with Caulobacter vibrioides. ... The central feature of the cell cycle regulation is a cyclical genetic circuit-a cell cycle engine-that is centered around the ... The genetic basis of the phenotypic differences between the two strains results from coding, regulatory, ...
Evolution of biological complexity
Usually organisms that have a higher rate of reproduction than their competitors have an evolutionary advantage. Consequently, organisms can evolve to become simpler and thus multiply faster and produce more offspring, as they require fewer resources to reproduce. A good example are parasites such as Plasmodium - the parasite responsible for malaria - and mycoplasma; these organisms often dispense with traits that are made unnecessary through parasitism on a host. A lineage can also dispense with complexity when a particular complex trait merely provides no selective advantage in a particular environment. Loss of this trait need not necessarily confer a selective advantage, but may be lost due to the accumulation of mutations if its loss does not confer an immediate selective disadvantage. For example, a parasitic organism may dispense with the synthetic pathway of a metabolite where it can readily scavenge that metabolite from its host. Discarding this synthesis may not necessarily allow ...
June 2004). "Genetic polymorphisms in tumor necrosis factor (TNF)-alpha and TNF-beta in a population-based study of systemic ... This compares with 25% of Cw7-B7 that extend to A3::DQ6  Of 25 potential genetic recombinants of A1::DQ2, none exceed 10% of ... February 1999). "The genetic basis for the association of the 8.1 ancestral haplotype (A1, B8, DR3) with multiple ... They found that multiple genes that make up AH8.1 define the genetic risk for all types of myositis. ...
Functional polymorphismsEdit. Six variable sites, including four polymorphisms and five common haplotypes have been identified ... "Genetic variation in the progesterone receptor gene and ovarian cancer risk". American Journal of Epidemiology. 161 (5): 442- ... Biochemical assays showed that the +331G/A polymorphism increases transcription of the PR gene, favoring production of hPR-B in ... Several studies have now shown no association between progesterone receptor gene +331G/A polymorphisms and breast or ...
... describes the genetic effect of a single gene on multiple phenotypic traits. The underlying mechanism is genes that ... The link was a single nucleotide polymorphism of two genes involved in calcium channel signaling with neurons. One of these ... Sickle cell anemia is a genetic disease that causes deformed red blood cells with a rigid, crescent shape instead of the normal ... This article is about genetic pleiotropy. For drug pleiotropy, see Pleiotropy (drugs). ...
ISBN 0-7817-6003-8. Menashe, I; Abaffy, T; Hasin, Y; Goshen, S; Yahalom, V; Luetje, CW; Lancet, D (2007-10-30). "Genetic ... has found that individuals with a single nucleotide polymorphism variant in the OR11H7P pseudogene have a lower receptor ... Keller, A; Zhuang, H; Chi, Q; Vosshall, LB; Matsunami, H (2007-09-27). "Genetic variation in a human odorant receptor alters ... The causes of hyperosmia may be genetic, environmental or the result of benzodiazepine withdrawal syndrome. When odorants enter ...
Bioinformática, a enciclopedia libre
"The genetic code" (PDF). Nobel Lecture (en inglés). nobelprize.org. Arquivado dende o orixinal (pdf) o 09 de xaneiro de 2009 ... "An Integrated View of Copy Number and Allelic Alterations in the Cancer Genome Using Single Nucleotide Polymorphism Arrays" ... "FDA Clears First of Kind Genetic Lab Test". FDA News (en inglés). FDA. Consultado o 13 de setembro de 2008 ... "Biochemical Method for Inserting New Genetic Information into DNA of Simian Virus 40: Circular SV40 DNA Molecules Containing ...
Polymorphism in ADD1 is associated with hypertension. GRCh38: Ensembl release 89: ENSG00000087274 - Ensembl, May 2017 GRCm38: ... 1999). "Evidence for an interaction between adducin and Na(+)-K(+)-ATPase: relation to genetic hypertension". Am. J. Physiol. ... 1997). "Polymorphisms of alpha-adducin and salt sensitivity in patients with essential hypertension". Lancet. 349 (9062): 1353- ... 1999). "Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis". Nat. Genet. 22 (3): 239 ...
Mutation in the CACNA1C gene, the single-nucleotide polymorphism located in the third intron of the Cav1.2 gene, are ... Hedley PL, Jørgensen P, Schlamowitz S, Moolman-Smook J, Kanters JK, Corfield VA, Christiansen M (Sep 2009). "The genetic basis ... Large-scale genetic analyses have shown the possibility that CACNA1C is associated with bipolar disorder  and subsequently ... "Biological insights from 108 schizophrenia-associated genetic loci". Nature. 511 (7510): 421-427. doi:10.1038/nature13595 ...
Genetic engineering. TATA box modification. Evolutionary changes have pushed plants to adapt to the changing ... Gastric cancer is correlated with TATA box polymorphism. The TATA box has a binding site for the transcription factor of ... Gilbert's syndrome is correlated with UTG1A1 TATA box polymorphism. This poses a risk for developing jaundice in newborns. ... Žaja O, Tiljak MK, Štefanović M, Tumbri J, Jurčić Z (May 2014). "Correlation of UGT1A1 TATA-box polymorphism and jaundice in ...
Cold Spring Harbor Laboratory
In 1908 George H. Shull discovered hybrid corn and the genetic principle behind it called heterosis, or "hybrid vigor." ... July 2004). "Large-scale copy number polymorphism in the human genome". Science. 305: 525-8. Bibcode:2004Sci...305..525S. doi: ... In 1952 the "Waring blender experiments" of Alfred Hershey and Martha Chase confirmed DNA as the genetic material. Hershey ... Michael Wigler, genetic engineering of animal cells and molecular biologist, Member of the National Academy of Sciences and ...
White blood cell
DNA paternity testing
"BIONEWS - Germany passes genetic test laws". www.bionews.org.uk.. *^ "Alpha Biolabs - Paternity Test". November 19, 2010. ... and restriction fragment length polymorphism (RFLP). Paternity testing can now also be performed while the woman is still ... so the genetic material of an individual is derived from the genetic material of both their parents in equal amounts. This ... and deduction of genetic constitution of the father by the basis of genetic laws to create a rough amalgamation. The advantage ...
"Genetic variant BDNF (Val66Met) polymorphism alters anxiety-related behavior". Science. 314 (5796): 140-3. Bibcode:2006Sci... ... The cause of anxiety disorders is a combination of genetic and environmental factors. Risk factors include a history of ... several gene polymorphisms have been found to correlate with anxiety: PLXNA2, SERT, CRH, COMT and BDNF. Several of ... Sep 2011). "Evidence of association between Val66Met polymorphism at BDNF gene and anxiety disorders in a community sample of ...
ஏபிஓ குருதி குழு முறைமை - தமிழ் விக்கிப்பீடியா
Ogasawara K, Bannai M, Saitou N, et al. (1996). "Extensive polymorphism of ABO blood group gene: three major lineages of the ... யமட்டோட்டோ, et al., ABO இரத்த வகையில் உள்ள மூலக்கூறு நிலை மரபியல் அடிப்படைகள் (Molecular genetic basis of the histo-blood group ... Seymour RM, Allan MJ, Pomiankowski A, and Gustafsson K (2004) Evolution of the Human ABO Polymorphism by Two Complementary ... and genetic variability". Stroke 37 (11): 2672-7. doi:10.1161/01.STR.0000244767.39962.f7. பப்மெட்:16990571. ...
OPN1LW - Википедија, слободна енциклопедија
Harrison, R (1980). "Dispersal polymorphisms in insects". Annual Review of Ecology and Systematics. 11: 95-118. doi:10.1146/ ... Evolution of genetic systems. *Evolvability. *Mutational robustness. *Neutral networks. *Evolution of sexual reproduction ... Harrison, R (1980). "Dispersal Polymorphisms in Insects". Annual Review of Ecology and Systematics. 11: 95-118. doi:10.1146/ ...
Sensory processing sensitivity
... polymorphisms in dopamine neurotransmitter genes, and the ADRA2b norepinephrine-related gene variant. ... genetic studies provide evidence that higher levels of SPS are linked to the serotonin transporter 5-HTTLPR short/short ... "Association between sensory processing sensitivity and the serotonin transporter polymorphism 5-HTTLPR short/short genotype." ...
Uvarov, B.P. (1966). "Phase polymorphism". Grasshoppers and Locusts (Vol. 1). Cambridge University Press.. ... "Do outbreaks affect genetic population structure? A worldwide survey in a pest plagued by microsatellite null alleles". ... These changes are examples of phase polymorphism; they were first analysed and described by Boris Uvarov, who was instrumental ...
Polymorphism and Genetic Programming | SpringerLink
Types have been introduced to Genetic Programming (GP) by researchers with different motivation. We present the concept of ... Yu T. (2001) Polymorphism and Genetic Programming. In: Miller J., Tomassini M., Lanzi P.L., Ryan C., Tettamanzi A.G.B., Langdon ... Fitness Function Genetic Programming Type Variable Genetic Operation Dynamic Typing These keywords were added by machine and ... Yu, T. and Clack, C.: PolyGP: a polymorphic genetic programming system in haskell. In: Proceedings of the Third Annual Genetic ...
Method for analysing genome using microsatellite genetic polymorphism - Nucleotide - NCBI
Patent US6664052 - Genetic polymorphism in a complement receptor - Google Patents
A method and a package for identifying single nucleotide polymorphisms in complement receptor is useful in identifying ... 24, 1998 entitled "Genetic Polymorphism in the Receptor for IgA," and U.S. provisional application Ser. No. 60/106,643 filed ... 2, 1998 entitled "Genetic Polymorphism in a Complement Receptor.". GRANT REFERENCE. The subject invention was made with ... Similarly, controversy persists regarding the role of size polymorphism in genetic predisposition to SLE, autoimmune and ...
Genetic Polymorphism of CYP2C19 & Therapeutic Response to Proton Pump Inhibitors - Redorbit
Genetic polymorphism of CYP2C19 Genetic polymorphism of CYP2C19 occurs with varying frequency among different ethnic groups viz ... IL-1beta genetic polymorphism in conjunction with CYP2C19 genetic polymorphism could also affect the eradication rates of H. ... genetic polymorphism. Sapone et al53 analyzed the combined effect of CYP2C19 and CYP3A4 polymorphisms on eradication of H. ... association has been found between the genetic polymorphism of CYP2C19 and therapeutic response to PPIs. CYP2C19 polymorphism ...
Genetic polymorphisms in the base excision repair pathway and cancer risk: a HuGE review. Rayjean J Hung. Genetic Epidemiology ... You are here: Research Topics , physical sciences , .. , genetic phenomena , variation genetics , genetic polymorphism ... A common genetic polymorphism in humans is associated with a three-to-four-fold variation in COMT enzyme activity and is also ... genetic polymorphism. Summary. Summary: The regular and simultaneous occurrence in a single interbreeding population of two or ...
Asbestosis and Catalase Genetic Polymorphism
This study investigates whether CAT -262 C,T genetic polymorphism influences the risk... ... "Asbestosis and Catalase Genetic Polymorphism." Arhiv za higijenu rada i toksikologiju, vol. 59, no. 4, 2008, pp. 233-240. https ... A. Franko, V. Dolžan, N. Arnerić and M. Dodič-Fikfak, "Asbestosis and Catalase Genetic Polymorphism", Arhiv za higijenu rada i ... Asbestosis and Catalase Genetic Polymorphism. Alenka Franko ; Clinical Institute of Occupational, Traffic and Sports Medicine, ...
CYP1A1 Genetic Polymorphisms in Ecuador, South America
... César Paz-y-Miño,1,2 Melissa Arévalo,1 María José Muñoz G.,1 and Paola ... These polymorphisms in Ecuador have higher frequencies if we compare with others around the world, with the exception of some ... of 108 individuals from the Ecuadorian population from rural and urban places were analyzed for two CYP1A1 gene polymorphisms. ...
Correlation of Genetic Polymorphism and Livedo Vasculitis - Tabular View - ClinicalTrials.gov
Preference of Genetic Polymorphism and Pharmacokinetics - Full Text View - ClinicalTrials.gov
Preference of Genetic Polymorphism and Pharmacokinetics. The safety and scientific validity of this study is the responsibility ... Genetic polymorphism affects plasma concentration of antiretroviral therapy in HIV patients. The investigators investigate the ... prevalence of genetic polymorphism affecting efavirenz metabolism and the corresponding pharmacokinetics of different genotypes ... Preference of CYP450 2B6 516 G,T Polymorphism and Pharmacokinetics of Plasma Efavirenz in A Group of HIV Infected Southern ...
Definition of Genetic polymorphism
N-acetyltransferase 1 genetic polymorphism influences the risk of prostate cancer development. - PubMed - NCBI
Genetic Polymorphism of Cancer Susceptibility Genes and HPV Infection in Cervical Carcinogenesis
... Osamu Nunobiki,1 Masatsugu ... S. Ara, P. S. Y. Lee, M. F. Hansen, and H. Saya, "Codon 72 polymorphism of the TP53 gene," Nucleic Acids Research, vol. 18, no ... A. N. Rosenthal, A. Ryan, R. M. Al-Jehani, A. Storey, C. A. Harwood, and I. J. Jacobs, "p53 codon 72 polymorphism and risk of ... Y. H. Lee, Y. R. Kim, J. D. Ji, J. Sohn, and G. G. Song, "Fas promoter -670 polymorphism is associated with development of anti ...
Polymorphism, Genetic | Journal of Virology
PrP Polymorphisms Tightly Control Sheep Prion Replication in Cultured Cells Elifsu Sabuncu, Stéphanie Petit, Annick Le Dur, ... HLA Class II Polymorphisms and Susceptibility to Recurrent Respiratory Papillomatosis Colin M. Gelder, O. Martin Williams, ... Polymorphisms in HLA Class I Genes Associated with both Favorable Prognosis of Human Immunodeficiency Virus (HIV) Type 1 ... Genetic Basis of Hypersusceptibility to Protease Inhibitors and Low Replicative Capacity of Human Immunodeficiency Virus Type 1 ...
A major zebrafish polymorphism resource for genetic mapping
... improving with polymorphism confidence score. Variant sites are non-random, with an excess of specific novel T- and A-rich ... We have identified 645,088 candidate polymorphisms in zebrafish and observe a single nucleotide polymorphism (SNP) validation ... A major zebrafish polymorphism resource for genetic mapping Genome Biol. 2007;8(4):R55. doi: 10.1186/gb-2007-8-4-r55. ... We positioned half of the polymorphisms on zebrafish genetic and physical maps as a resource for positional cloning. We further ...
Molecular keys to speciation: DNA polymorphism and the control of genetic exchange in enterobacteria | PNAS
Molecular keys to speciation: DNA polymorphism and the control of genetic exchange in enterobacteria. Marin Vulić, Francisco ... The extent of genetic recombination is a key determinant and a measure of genetic isolation. The results reported here reveal ... Molecular keys to speciation: DNA polymorphism and the control of genetic exchange in enterobacteria ... Molecular keys to speciation: DNA polymorphism and the control of genetic exchange in enterobacteria ...
Worldwide Distribution of D1S80 Polymorphism. Comparison of Genetic Distances and Cluster Analysis | SpringerLink
Worldwide Distribution of D1S80 Polymorphism. Comparison of Genetic Distances and Cluster Analysis. ... Comparison of Genetic Distances and Cluster Analysis. In: Carracedo A., Brinkmann B., Bär W. (eds) 16th Congress of the ... Chuah SY, Tan WF, YAp KH, Tai HE, Chow ST (1994) Analysis of the D1S80 locus by amplified fragment length polymorphism ... Alonso A, Martfn P, Albarran C, Sancho M (1993) Amplified fragment length polymorphism analysis of the VNTR locus D1S80 in ...
High-Throughput Genetic Mapping of Mutants via Quantitative Single Nucleotide Polymorphism Typing | Genetics
High-Throughput Genetic Mapping of Mutants via Quantitative Single Nucleotide Polymorphism Typing. Sanzhen Liu, Hsin D. Chen, ... High-Throughput Genetic Mapping of Mutants via Quantitative Single Nucleotide Polymorphism Typing. Sanzhen Liu, Hsin D. Chen, ... High-Throughput Genetic Mapping of Mutants via Quantitative Single Nucleotide Polymorphism Typing. Sanzhen Liu, Hsin D. Chen, ... Single nucleotide polymorphisms (SNPs) can be converted into genetic markers that are scored in mapping populations using ...
Surnames and genetic structure: a molecular analysis using Y-chromosomal DNA polymorphisms
Clinical relevance of genetic polymorphisms in the human CYP2C subfamily
... Br J Clin Pharmacol. 2001 Oct;52(4):349-55. doi: ... New polymorphisms have been discovered in CYP2C8, which metabolizes taxol (paclitaxel). Genetic testing is available for all of ... The polymorphism affects metabolism of the anticonvulsant agent mephenytoin, proton pump inhibitors such as omeprazole, the ... A number of mutant alleles exist that can be detected by genetic testing. CYP2C9 metabolizes a wide variety of drugs including ...
Evolution of supergenes and the genetic basis of snail colour polymorphism | Projects | H2020 | CORDIS | European Commission
Evolution of supergenes and the genetic basis of snail colour polymorphism. From 2018-09-01 to 2020-08-31, ongoing project ... The proposed project helps to fill this scientific gap by investigating the supergene that controls shell colour polymorphism ... Despite the panoply of complex polymorphisms presumably controlled by supergenes, molecular evidence for their existence is ... this project offers a unique window into the evolution of supergenes and polymorphisms and provides the European research ...
Effects of Sildenafil in Resistant Hypertensives and Genetic Polymorphism - Full Text View - ClinicalTrials.gov
Effects of Sildenafil in Resistant Hypertensives and Genetic Polymorphism. The safety and scientific validity of this study is ... Therefore, the objective of the present study is to examine the influence of a genetic variant (known to affect NOS3 levels) in ... Therefore, since the genetics polymorphisms of eNOS can affect the NO tissue levels, it seems reasonable to suppose that the ... Objective: To examine the influence of the T-786C polymorphism of eNOS gene in sildenafil acute effects on hemodynamic and ...
Systems genetic analysis of inversion polymorphisms in the malaria mosquito Anopheles gambiae | PNAS
Systems genetic analysis of inversion polymorphisms in the malaria mosquito Anopheles gambiae. Changde Cheng, John C. Tan, ... Systems genetic analysis of inversion polymorphisms in the malaria mosquito Anopheles gambiae ... Systems genetic analysis of inversion polymorphisms in the malaria mosquito Anopheles gambiae ... Systems genetic analysis of inversion polymorphisms in the malaria mosquito Anopheles gambiae ...
Genetic Polymorphisms Associated With Vertebral Osteochondrosis - Full Text View - ClinicalTrials.gov
Genetic: presence of genetic variants identification of the presence of genetic variants ... Genetic Polymorphisms Associated With Vertebral Osteochondrosis (OSTEOGEN). The safety and scientific validity of this study is ... Evaluation of Polymorphisms in the Vitamin D Receptor and Involved in Inflammation Associated With Vertebral Osteochondrosis. ... The present study is proposed for the identification of phenotype, biochemical and genetic markers in adult symptomatic spinal ...
Common Sequence Polymorphisms Shaping Genetic Diversity in Arabidopsis thaliana | Science
Common Sequence Polymorphisms Shaping Genetic Diversity in Arabidopsis thaliana. By Richard M. Clark, Gabriele Schweikert, ... Common Sequence Polymorphisms Shaping Genetic Diversity in Arabidopsis thaliana. By Richard M. Clark, Gabriele Schweikert, ... Common Sequence Polymorphisms Shaping Genetic Diversity in Arabidopsis thaliana Message Subject. (Your Name) has forwarded a ... Sample selection, array design, and polymorphism detection. For polymorphism discovery, we selected accessions with maximal ...
Cytochrome P450 Genetic Polymorphisms and the Response to Prasugrel | Circulation
The major genetic defect responsible for the polymorphism of S-mephenytoin metabolism in humans. J Biol Chem. 1994; 269: 15419- ... Cytochrome P450 Genetic Polymorphisms and the Response to Prasugrel. Jessica L. Mega, Sandra L. Close, Stephen D. Wiviott, Lei ... Cytochrome P450 Genetic Polymorphisms and the Response to Prasugrel. Jessica L. Mega, Sandra L. Close, Stephen D. Wiviott, Lei ... Genetic polymorphism of CYP2D6 and CYP2C19 in east- and southern African populations including psychiatric patients. Eur J Clin ...
Strategy to Unlock Potential of Genetic Polymorphisms | BioWorld
Genetic Polymorphisms of Some Bovine Lactogenic Hormones | IntechOpen
Genetic Polymorphisms of Some Bovine Lactogenic Hormones , IntechOpen, Published on: 2012-09-26. Authors: Yousef Mehmannavaz ... Importance of genetic polymorphisms studies in dairy cattle breeding. For more than 50 years, dairy breeders have used genetic ... 2.1.5. Polymorphisms of bPRL gene associated with milk production. Extensive genetic polymorphism studies were carried out, ... In this quantitative genetic approach to genetic improvement, the genetic architecture of traits has essentially been treated ...
Genetic polymorphism analyses of 30 InDels in Chinese Xibe ethnic group and its population genetic differentiations with other...
Further studies should be conducted for better understanding of the Xibe genetic background. ... interpopulation differentiations and phylogenetic tree revealed that the Xibe group had close genetic relationships with South ... data and forensic parameters of 30 InDel loci in Chinese Xibe ethnic group from northwestern China and studied the genetic ... et al. Genetic polymorphism analyses of 30 InDels in Chinese Xibe ethnic group and its population genetic differentiations with ...
Influence of genetic polymorphism on tramadol pharmacokinetics and pharmacodynamics
The influence of genetic polymorphisms in ABCB1 and OPRM1 requires further study. We propose that pharmacogenetics should be ... Influence of genetic polymorphism on tramadol pharmacokinetics and pharmacodynamics. Bastami, Salumeh Linköping University, ... We also studied the association between genetic polymorphisms in CYP2D6, OPRM1 and ABCB1 and pharmacokinetic and ... We showed that genetic variants in CYP2D6 and UGT2B7 have an important role in the metabolism of tramadol and morphine ...
Genetic polymorphism of the interferon-gamma gene in cervical carcinogenesis | Cancer Research
Epidemiology 12: Polymorphisms Related to Inflammation, Immune Response, and Oxidative Damage Genetic polymorphism of the ... Genetic polymorphism of the interferon-gamma gene in cervical carcinogenesis Message Subject (Your Name) has forwarded a page ... NQO1 polymorphisms as risk factors in colon cancer and chronic lymphocytic leukemia ... Show more Epidemiology 12: Polymorphisms Related to Inflammation, Immune Response, and Oxidative Damage ...
SNPsGene polymorphismsAlleleGeneticsMarkersEnzymesGenesDiversityLength polymorphismsGSTM1VariantsFrequenciesVariationEffect of genetic polymorphismsInfluence of genetic polymorphismsPopulationsGSTT1PhenotypicABCB1GenotypesMolecularCYP2E1AllelesVariabilityPathogenesisFrequencyFunctionalSusceptibility to schizophreniaMetabolism of the anticonvulsantGenotypePromoter polymorphismCYP2D6MutationRestrictionCYP1A1VariantOccurrenceEnzymeSingleIsolatesCodonInteractionsMultivariate analysisAnalysisAssociationHumansVariationsStudyHaplotypeEpidemiologyBiochemicalGenomePolymorphicPatientsRecombination1998SerumAnalysesGenomicInfluences the riskSurvivalCytochromeDeletionCYP2C8CorrelationClinicalSequenceGenomes
- We further demonstrate bulked segregant analysis using the anchored SNPs as a method for high-throughput genetic mapping in zebrafish. (nih.gov)
- Advances in next-generation sequencing technology have facilitated the discovery of single nucleotide polymorphisms (SNPs). (genetics.org)
- Approximately 75% of these SNPs were successfully converted into genetic markers that can be scored reliably and used to generate a SNP-based genetic map by genotyping recombinant inbred lines from the intermated B73 × Mo17 population. (genetics.org)
- Approximately 75% of the tested SNPs could be converted into genetic markers, and only ∼3% were deemed to be false positives. (genetics.org)
- More than 1 million nonredundant single-nucleotide polymorphisms (SNPs) were identified at moderate false discovery rates (FDRs), and ∼4% of the genome was identified as being highly dissimilar or deleted relative to the reference genome sequence. (sciencemag.org)
- To overcome such limitations for STR loci, single nucleotide polymorphisms (SNPs) are considered as an alternative and supplementary markers 11 . (nature.com)
- InDels are the second abundant DNA polymorphisms after SNPs 17 . (nature.com)
- We further compiled a genetic-variation resource of 7,155 simple-sequence repeats (SSRs) and 6,500 single-nucleotide polymorphisms (SNPs). (plos.org)
- A subset of 480 SNPs was sampled to investigate the genetic structure of the broad pomegranate germplasm collection at the Agricultural Research Organization (ARO), which includes accessions from different geographical areas worldwide. (plos.org)
- Certain HLA class II alleles and single nucleotide polymorphisms (SNPs) of antioxidant enzymes (e.g., glutathione-s-transferases, N-acetyl transferases) have been associated with confirmed DA, although these findings have not yet been replicated in multiple populations. (cdc.gov)
- Enclosed are new, functionally relevant single nucleotide polymorphisms (SNPs) in regulatory sequences of the human AQP5 gene which encodes a water channel protein and plays a fundamental role in signal transduction and water homeostasis. (innovations-report.com)
- Enclosed are new, functionally relevant single nucleotide polymorphisms (SNPs) in regulatory sequences of the human CHK1 gene which encodes the checkpoint-kinase-1. (innovations-report.com)
- Five tag single nucleotide polymorphisms (SNPs) around or in LBX1 were genotyped in 180 patients with AIS and 182 controls. (ovid.com)
- Multiple candidate gene-association studies of non-HLA single-nucleotide polymorphisms (SNPs) and outcomes after blood or marrow transplant (BMT) have been conducted. (bloodjournal.org)
- We selected and genotyped 4 cancer-associated single nucleotide polymorphisms (SNPs) in a cohort of 282 colorectal cancer patients. (medsci.org)
- Single nucleotide polymorphisms, frequently called SNPs are the most common type of genetic variation among people. (wellmark.com)
- Single-nucleotide polymorphisms (SNPs) are widely used for whole-genome sequencing (WGS)-based subtyping of foodborne pathogens in outbreak and source tracking investigations. (asm.org)
- One of potential pathways involved in the drug action is DNA repair pathway, accordingly single nucleotide polymorphisms (SNPs) in the DNA repair machinery pathway might be a predictive marker for therapy outcomes in AML. (bioportfolio.com)
- MicroRNA (miRNA)-related single nucleotide polymorphisms (miR-SNPs) in miRNA processing machinery genes are implicated in carcinogenesis, as they change the expression profiles of miRNA. (eurekamag.com)
- A total of 108 individuals from the Ecuadorian population from rural and urban places were analyzed for two CYP1A1 gene polymorphisms. (hindawi.com)
- Real-time polymerase chain reaction was carried out for the evaluation of specific CYP450 gene polymorphisms via the specific TaqMan ® SNP genotyping assays (Applied Biosystems Inc.) for detection of CYP2C8*3 (rs10509681) and CYP2C9*2 (rs1799853) polymorphisms in the CYP450 gene. (psu.edu)
- Our objective was to extend current knowledge of the genetics of beryllium disease by examining all HLA-DPB1 and HLA-DPR1 gene polymorphisms and the interactions between them. (bmj.com)
- To analyze such a possible role of dopaminergic pathway gene polymorphisms, we used a case-control approach. (figshare.com)
- A contribution of dopaminergic pathway gene polymorphisms to schizophrenia seems possible in our sample set. (figshare.com)
- Genetic polymorphism is the occurrence of a variant allele with a frequency of 1 per cent or greater in a population. (redorbit.com)
- In polymorphisms, there are two or more equally acceptable alternatives and to be classified as a polymorphism, the least common allele must have a frequency of 1% or more in the population. (thebalance.com)
- Thirty-five single nucleotide polymorphism (SNP) markers with a high minor allele frequency in East African landraces were used. (cambridge.org)
- The simplest polymorphisms to use are biallelic, which most commonly arise from a SNP, 4 and give rise to three different genotype classes: the common allele homozygote, the heterozygote, and the rare allele homozygote. (aacrjournals.org)
- In the case of simple biallelic polymorphisms, allele frequencies in cases and controls can be compared using the χ 2 test to ascertain statistical significance. (aacrjournals.org)
- This overrepresentation of the Gly16 allele in nocturnal asthma was significant at P = 0.007 with an odds ratio of having nocturnal asthma and the Gly16 polymorphism being 3.8. (jci.org)
- So to establish a database of CYP2C9 allele frequencies for the healthy Uygurs, which would be useful for personalized medicine, we decided to systematically screen the polymorphisms of the CYP2C9 gene and compared their allelic frequencies with previous data of other ethnic groups. (biomedcentral.com)
- A recent study suggested that the A allele of the 3′UTR biallelic polymorphism in the LBP-1c / CP2 / LSF gene was associated with reduced AD risk. (bmj.com)
- They found that the A allele of a G/A polymorphism located in the 3′UTR was associated with sporadic AD in samples diagnosed predominantly by clinical, rather than pathological, criteria. (bmj.com)
- The allelic polymorphism and specificity of the allele distribution and their frequencies were studied by microsatellite DNA loci (Psp12, Psp21, Psp26, Psp28) in the three paddlefish stocks. (begellhouse.com)
- To this end, we suspected there could be non-additive interactions between genetic variants which may explain some of the allele reversal. (arvojournals.org)
- The proposed project helps to fill this scientific gap by investigating the supergene that controls shell colour polymorphism in a classical model for ecological genetics and climate-induced evolutionary change, the land snail Cepaea nemoralis. (europa.eu)
- Therefore, since the genetics polymorphisms of eNOS can affect the NO tissue levels, it seems reasonable to suppose that the acute effects of sildenafil may be modulated by them. (clinicaltrials.gov)
- Molecular genetics allows for the study the genetic make-up of individuals at the DNA level and may provide the tools to make those opportunities a reality, either by direct selection on genes that affect traits of interest major genes or quantitative trait loci (QTL) - or through selection on genetic markers linked to QTL. (intechopen.com)
- A combination of the Greek words poly (meaning multiple) and morph (meaning form), polymorphism is a term used in genetics to describe multiple forms of a single gene that exists in an individual or among a group of individuals. (thebalance.com)
- Where monomorphism means having only one form and dimorphism means there are only two forms, the term polymorphism is a very specific term in genetics and biology , relating to the multiple forms of a gene that can exist. (thebalance.com)
- The use of genetic polymorphisms was one of the strengths of deCODE Genetics , a company that focused on determining genetic risk factors for various diseases. (thebalance.com)
- Overall the data reported here show that in C. africana genetic diversity occurs and the existence of this intriguing group of C. albicans strains with specific phenotypes associated could be useful for future comparative studies in order to better understand the genetics and evolution of this important human pathogen. (frontiersin.org)
- These SNP-based markers were used to construct a genetic map that can be used to address diverse biological questions. (genetics.org)
- The present study is proposed for the identification of phenotype, biochemical and genetic markers in adult symptomatic spinal osteochondrosis to promote the early diagnosis of this pathological condition and to establish possible therapeutic targets that favor a conservative approach aimed at treating patients. (clinicaltrials.gov)
- 2014) Single-Nucleotide Polymorphism Markers from De-Novo Assembly of the Pomegranate Transcriptome Reveal Germplasm Genetic Diversity. (plos.org)
- We used sequence-related amplified polymorphism (SRAP) markers and obtained 257 clearly defined bands amplified by 20 primers from 461 individuals. (mdpi.com)
- Chen, X. Population Structure and Genetic Relationships of Melia Taxa in China Assayed with Sequence-Related Amplified Polymorphism (SRAP) Markers. (mdpi.com)
- Single-nucleotide polymorphism (SNP) molecular markers were identified in DNA sequences from 16 distinct regions of the genome of 24 strains of X. fastidiosa from coffee and citrus plants. (apsnet.org)
- The identified SNP markers were able to distinguish, for the first time, strains from citrus plants and coffee and showed that strains from coffee present higher genetic diversity than the others. (apsnet.org)
- X. fastidiosa , the causal agent of citrus variegated chlorosis, possesses genetic diversity, and the SNP markers were highly efficient for discriminating genetically close organisms. (apsnet.org)
- We genotyped a total of 31 potential single nucleotide polymorphism/variable number of tandem repeat markers from 9 candidate genes including the dopamine receptors and metabolizing enzymes (synthesis and degradation) in 215 schizophrenia cases and 215 healthy controls from North India. (figshare.com)
- Inter-individual variations in the metabolism of drugs have been observed in different ethnic groups due to the occurrence of genetic polymorphism of the drug metabolizing enzymes. (redorbit.com)
- For example, within the human race, there are many different polymorphisms of CYP 1A1, one of many cytochrome P450 enzymes of the liver. (thebalance.com)
- Although the enzymes are basically the same sequence and structure, polymorphisms in this enzyme can influence how humans metabolize drugs. (thebalance.com)
- These metabolic enzymes have known polymorphisms that could lead to increased levels of the VC reactive intermediates and thus an increased risk for mutations and cancer following exposure. (cdc.gov)
- Genetic Polymorphisms in Metabolizing Enzymes and Susceptibi. (lww.com)
- To evaluate whether polymorphisms in metabolizing enzymes contributed to susceptibility of chromosomal damage induced by vinyl chloride monomer (VCM). (lww.com)
- Differences in the efficacy and toxicity of various antidiabetic drugs have been linked to polymorphisms in various drug metabolizing enzymes. (psu.edu)
- It is an important member of the cytochrome oxidase P450 enzyme system, and polymorphisms in CYP450 enzymes are responsible for observed variation in drug responses among patients of different ethnic origins. (biomedcentral.com)
- Several genetic polymorphisms in metabolic activation or detoxification enzymes have been associated with susceptibility to therapy-related leukemia and myelodysplastic leukemia (TRL/MDS). (aacrjournals.org)
- Patterns of polymorphism are highly nonrandom among gene families, with genes mediating interaction with the biotic environment having exceptional polymorphism levels. (sciencemag.org)
- We used this information to systematically determine the types of sequences and genes that differ between accessions and to provide a high-resolution description of the genome-wide distribution of polymorphisms in this multicellular reference organism. (sciencemag.org)
- To date, most genetic progress for quantitative traits in livestock, especially for dairy cows has been made by selection on phenotype or on estimated breeding values (EBV) derived from phenotype, without knowledge of the number of genes that affect the trait or the effects of each gene. (intechopen.com)
- Polymorphism was originally used to describe visible forms of genes, but the term is now used to include cryptic modes such as blood types, which require a blood test to decipher. (thebalance.com)
- Multi-locus sequencing of seven housekeeping genes revealed a substantial genetic homogeneity among the strains, except for the CaMPIb, SYA1 and VPS13 loci which contributed significantly to the classification of our set of C. africana strains into six existing diploid sequence types. (frontiersin.org)
- Genetic variability is extremely high in one of these groups, intermediate in another, and relatively low in a third, with the pattern of changing frequencies of allelic genes at the T f locus following the pattern of geographic distribution of the actual conspecific populations or races for which the groups are named. (sciencemag.org)
- The aim of this study was to investigate the association of proinflammatory cytokine genes, tumor necrosis factor (TNF)-α (-308G/A) and TNF-β (+252A/G) polymorphisms with schizophrenia susceptibility. (dovepress.com)
- The genotypes of 11 polymorphisms in the 10 genes that have been indicated to be associated with serum uric acid levels or gout were determined. (jrheum.org)
- Subsequently, we tested for the interaction effect of maternal smoking, GSTT1 and GSTM1 genes polymorphisms with birthweight by adding all the product terms in the regression models. (vdu.lt)
- Understanding the etiology and pathogenesis of schizophrenia has been difficult due to the complex inheritance patterns, genetic heterogeneity and varied multiple nonlinear interactions between genes. (figshare.com)
- Because these two DNA repair systems are influenced by environmental and physiological factors, and because they control both genetic barriers and the mutation rate ( 8 ), they may be thought of as molecular links between environmental changes and the creation of genetic diversity, influencing directly the rate of bacterial evolution, including pathogenicity ( 9 ) and speciation ( 2 ). (pnas.org)
- For polymorphism discovery, we selected accessions with maximal genetic diversity ( 6 , 7 ). (sciencemag.org)
- Polymorphism promotes diversity and persists over many generations because no single form has an overall advantage or disadvantage over the others in terms of natural selection. (thebalance.com)
- This lack of polymorphism, and the inability to test for decrease in polymorphism using museum samples, precludes testing whether the lack of genetic diversity in the population on Fiji is due to a recent bottleneck, or sustained isolation over evolutionary time. (usgs.gov)
- This study aimed at investigating the genetic diversity of a panel of Candida africana strains recovered from vaginal samples in different countries. (frontiersin.org)
- One of the great challenges in the past 20 years of mycological research has been to understand the genetic diversity and evolution of pathogenic fungi. (frontiersin.org)
- Here, we investigated the genetic diversity and population structure of 31 Melia populations across the natural distribution range of the genus in China. (mdpi.com)
- The genetic diversity of the total population ( H t ) and within populations ( H s ) was 0.37 ± 0.01 and 0.20 ± 0.01, respectively. (mdpi.com)
- Background: It is well-established that the differences among ethnic groups in drug response mainly lie in the genetic diversity of pharmacogenes. (omicsonline.org)
- The aim of this study was to obtain information about genetic diversity and make some inferences about the relationship of 27 strains of Xylella fastidiosa from different hosts and distinct geographical areas. (apsnet.org)
- In this study, genetic diversity and natural selection of PfCSP in Myanmar as well as global P. falciparum were comprehensively analysed. (springer.com)
- A comparative analysis of the two regions in global PfCSP displayed similar patterns of low genetic diversity in global population, but substantial geographic differentiation was also observed. (springer.com)
- Myanmar and global PfCSP displayed genetic diversity. (springer.com)
- The genetic diversity of 45 almond cultivars from Iran, Europe, and America, were studied assaying 19 primer combinations. (csic.es)
- Our results showed the great genetic diversity of the almond cultivars and their interest for almond breeding. (csic.es)
- However, as length polymorphisms, InDels can be genotyped using capillary electrophoresis which is available in common forensic laboratories. (nature.com)
- Multiallelic, repeat length polymorphisms (microsatellites), such as the (TTTA) n polymorphism in CYP19 , can also be used, but these usually give rise to many genotypes. (aacrjournals.org)
- Using restriction fragment length polymorphism (RFLP) analysis, we have examined a cohort of 597 French VC workers for polymorphisms in CYP2E1, ALDH2, GSTM1 and GSTT1 in relation to the occurrence of mutant oncogene and tumor suppressor gene biomarkers that are attributable to VC exposure. (cdc.gov)
- The polymerase chain reaction and restriction fragment length polymorphism technique was applied to detect polymorphisms of GSTT1, GSTM1, GSTP1G/A, CYP2E1G/C, and CYP2D6G/C. Poisson regression analysis was performed. (lww.com)
- Asthmatic children with a genetic deficiency of GSTM1 may be more susceptible to the deleterious effects of ozone on the small airways and might derive greater benefit from antioxidant supplementation. (bmj.com)
- 4 A common homozygous deletion polymorphism of the GSTM1 gene ( GSTM1 null genotype) abolishes enzyme activity and may increase susceptibility to oxidative stress. (bmj.com)
- We conducted a case-control study of 543 women who delivered singleton live births in Kaunas (Lithuania), examining the association between low-level tobacco smoke exposure (mean: 4.8 cigarettes/day) during pregnancy, GSTT1 and GSTM1 polymorphisms and birthweight of the infant. (vdu.lt)
- Comprehensive polymorphism data are essential for the systematic identification of sequence variants affecting phenotypes ( 1 ). (sciencemag.org)
- We then examined the association of these genetic variants with cardiovascular outcomes in a cohort of 1466 patients with acute coronary syndromes allocated to treatment with prasugrel in the Trial to Assess Improvement in Therapeutic Outcomes by Optimizing Platelet Inhibition With Prasugrel-Thrombolysis in Myocardial Infarction 38 trial. (ahajournals.org)
- Conclusions- Common functional CYP genetic variants do not affect active drug metabolite levels, inhibition of platelet aggregation, or clinical cardiovascular event rates in persons treated with prasugrel. (ahajournals.org)
- Also, the term is sometimes used incorrectly to describe visibly different geographical races or variants, but polymorphism refers to the fact that the multiple forms of a single gene must occupy the same habitat at the same time (which excludes geographical, race or seasonal morphs. (thebalance.com)
- Various genetic variants have been identified as risk factors for DA in association studies. (cdc.gov)
- Studies investigating the relationship between common genetic variants and cancer risk are being reported with rapidly increasing frequency. (aacrjournals.org)
- Although some of the familial risk may be due to shared environment, there may be other common, low-penetrance genetic variants which alter predisposition to breast cancer. (aacrjournals.org)
- The aim is to study polymorphisms that may either be causally related to disease risk or are in strong linkage disequilibrium with disease-causing variants. (aacrjournals.org)
- Genetic frequencies of these variants, haplotype distribution and comparison with those in four Hap Map populations including Han Chinese in Beijing, China (CHB), the Japanese in Tokyo, Japan (JPT), a northern and western Europe population (CEU), and the Yoruba in Ibadan, Nigeria (YRI) were analyzed. (omicsonline.org)
- To investigate genetic polymorphisms of CYP2D6 in the Uygur population, we directly sequenced the whole gene in 96 unrelated, healthy Uygur volunteers from the Xinjiang Uygur Autonomous Region and screened for genetic variants in the promoter, intron, exons, and 3'UTR. (biomedcentral.com)
- Moderate risk alleles, such as variants in the CHEK2 gene, are also relatively rare and apparently explain very little of genetic risk. (wellmark.com)
- In a previous study Lambert et al 3 sequenced the transcription factor LBP-1c / CP2 / LSF gene, which lies within the chromosome 12 AD locus, in order to identify any genetic variants that may modify the risk of developing AD. (bmj.com)
- These polymorphisms in Ecuador have higher frequencies if we compare with others around the world, with the exception of some South American population in Brazil and Chile. (hindawi.com)
- Asperilla C, Herrera M, Prieto L, Giménez D, Arroyo E, Ruiz de la Cuesta JM (1995) Amplified fragment length polymorphism frequencies of the D1S80 locus in Northern east Spain. (springer.com)
- The frequencies of alleles and genotypes of TNF-α (-308G/A) and TNF-β (+252A/G) polymorphisms in patients were compared with those in controls. (dovepress.com)
- For the CYP2C9*2 (rs1799853) polymorphism, the frequencies were 3.1%, 12.5% and 84.44% for CC, AA and CA genotypes. (psu.edu)
- The most notable polymorphisms identified in the N-terminal region of global PfCSP were A98G and 19-amino acid length insertion in global population with different frequencies. (springer.com)
- In conclusion, interpopulation variability in the observed frequencies of ABCB1 polymorphisms among Mexican Mestizos and Amerindians allow predicting diverse drug responses to ABCB1 substrates in these populations. (springer.com)
- At the chromosomal scale, regional variation in polymorphism was readily apparent. (sciencemag.org)
- Analyzing the polymorphisms we describe in larger sets of accessions will enable a detailed understanding of forces shaping population-wide sequence variation in A. thaliana . (sciencemag.org)
- High-density oligonucleotide arrays provide an alternative approach for polymorphism detection and have been used to identify a large fraction of the SNP variation in the human and the mouse ( 3 , 4 ). (sciencemag.org)
- The resulting polymorphism data set captures much of the common sequence variation in the worldwide A. thaliana population. (sciencemag.org)
- Purpose: There is a significant interindividual variation in the response to tramadol (TRA), which can partly be explained by genetic variation. (diva-portal.org)
- There was great interindividual variation in DRS, but no associations could be found between DRS and investigated polymorphisms. (diva-portal.org)
- Instead, polymorphism refers to forms that are discontinuous (have discrete variation), bimodal (having or involving two modes), or polymodal (multiple modes). (thebalance.com)
- A polymorphism is a DNA sequence variation that is common in the population. (thebalance.com)
- Fragment data from 12 microsatellite loci and sequence information from the control region of the mitochondrial DNA indicated levels of genetic variation in the South Pacific populations were lower than other island and mainland populations. (usgs.gov)
- Then, we investigated the impact of genetic variation in MR and comorbidity with hypertension on the prognosis in ADT. (frontiersin.org)
- Clinicopathological characteristics were comparable between genetic variation in MR. However, homozygous variant in MR was associated with shorter time to castration resistance ( P = 0.014) and any-cause death ( P = 0.024). (frontiersin.org)
- Genetic variation in MR (rs5522) and comorbidity with hypertension were significantly and potentially associated with prognosis when treated with ADT, respectively. (frontiersin.org)
- Genetic variation in nondisjunction frequency among X chromosomes from two Drosophila melanogaster natural populations is examined in a sensitized assay. (genetics.org)
- A high level of genetic variation is observed (a range of 0.006-0.241). (genetics.org)
- The oötid competition model can account for both high mean rates of female-specific nondisjunction in Drosophila and humans as well as the standing genetic variation in this critical fitness character in natural populations. (genetics.org)
- One possible explanation for the observed sex bias in rates of nondisjunction is that natural populations do not harbor any genetic variation in rates of female-specific nondisjunction. (genetics.org)
- Numerous previous studies have detected genetic variation for recombination rates in female meiosis (reviewed in B rooks 1988 ). (genetics.org)
- It has a high degree of genetic variation. (biomedcentral.com)
- Although differences among Amerindians are probably due to genetic drift effects, for Mestizos this could imply variation in admixture composition. (springer.com)
- Recent pharmacogenetics studies suggest that the growth promotion by GH treatment is influenced by a variation in the human GHR gene (d3/fl-GHR) in patients who have been diagnosed to be small for gestational age, with GH-deficiency (GHD), idiopathic short stature, or Turner syndrome, although this genetic effect still remains controversial. (eurekaselect.com)
- The potential clinical application of GHR genetic variation is discussed for the optimization of the GH dosage in children or adults in order to enable them to reach their ideal final height as well as to prevent cardiovascular complications. (eurekaselect.com)
Effect of genetic polymorphisms1
Influence of genetic polymorphisms2
- The influence of genetic polymorphisms in ABCB1 and OPRM1 requires further study. (diva-portal.org)
- Objective: To determine the influence of genetic polymorphisms of the renin-angiotensin-aldosterone system (RAAS) on ECG and two dimensional echocardiographic left ventricular hypertrophy (LVH) in genetically identical patients with HCM. (bmj.com)
- Deka R, Decroo S, Jin L, MacGarvey ST, Rothhammer F, Ferrel RE, Chakraborty R (1994) Population genetic characteristics of the D1S80 locus in seven human populations. (springer.com)
- These results suggest the existence of a possible gene-environment interaction between polymorphisms in the VC metabolic pathway and VC exposure that could contribute to the variable susceptibility to the mutagenic effects of VC in exposed populations. (cdc.gov)
- Genetic divergencies between chimpanzee populations, not only.between Pan panicus and Pan troglodytes but also between different groups of the latter, are revealed by typing of transferrin. (sciencemag.org)
- Genetic factors such as LBX1 polymorphisms have been recently proved to be associated with AIS in some populations. (ovid.com)
- Both of these polymorphisms are found at intermediate frequency in widely distributed natural populations. (genetics.org)
- We aimed to describe the genetic variability of these three ABCB1 polymorphisms in a total sample of 273 Mexican volunteers that included Mestizos from the state of Yucatán, and Amerindians from seven populations (Tarahumara, Mayo, Huichol, Purépecha, Nahua, Tojolabal, and Maya). (springer.com)
- Genotype distribution was in Hardy-Weinberg equilibrium for all three ABCB1 polymorphisms in the eight Mexican populations analyzed. (springer.com)
- Genetic study of African populations: polymorphisms of the plasma proteins TF, PL, F13B, and AHSG in populations of Namibia and Mozambique. (biomedsearch.com)
- The dendrogram, based on genetic distance data D and average linkage cluster analysis, shows minimal distance between both black African populations of Namibia and Mozambique and marked distance between those and the Khoisan population of Namibia. (biomedsearch.com)
- Despite indirect evidence of their adaptive significance, little is known of the phenotypic targets of selection or the underlying genetic mechanisms. (pnas.org)
- The main reasons why molecular genetic information can result in greater genetic gain than phenotypic information are: a) Assuming no genotyping errors, molecular genetic information is not affected by environmental effects and, therefore, has heritability equal to 1. (intechopen.com)
- We report the characterization of the genetic polymorphism causing the phenotypic difference. (portlandpress.com)
- Phenotypic expression is heterogeneous even within families with the same aetiological mutation and may be influenced by additional genetic factors. (bmj.com)
- 3 The genetic and environmental causes of this phenotypic variability of HCM are unknown. (bmj.com)
- We also studied the association between genetic polymorphisms in CYP2D6, OPRM1 and ABCB1 and pharmacokinetic and pharmacodynamic properties of TRA. (diva-portal.org)
- We found an association between ABCB1 polymorphisms and survival in EOC patients. (edu.au)
- In lymphoblastoid cell lines (LCLs), ABCB1 expression correlated with transporter activity and paclitaxel sensitivity, but not with ABCB1 polymorphisms. (edu.au)
- The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. (labome.org)
- The investigators investigate the prevalence of genetic polymorphism affecting efavirenz metabolism and the corresponding pharmacokinetics of different genotypes. (clinicaltrials.gov)
- Phylogenetic relationships of E. bieneusi genotypes identified in this study and other genotypes previously deposited in GenBank, as inferred by a neighbor-joining analysis of ITS sequences based on genetic distances calculated by the Kimura two-parameter model. (asm.org)
- The structural basis of the barrier to genetic recombination on the molecular level is the difference in their DNA sequences ( 1 , 2 ). (pnas.org)
- Despite the panoply of complex polymorphisms presumably controlled by supergenes, molecular evidence for their existence is scarce, and the emergence of such genetic architecture is surprisingly poorly understood. (europa.eu)
- b)-Molecular genetic information can be available at an early age, in principle at the embryo stage, thereby allowing early selection and reduction of generation intervals. (intechopen.com)
- C) Molecular genetic information can be obtained on all selection candidates, which is especially beneficial for sex-limited traits, traits that are expensive or difficult to record, or traits that require slaughter of the animal (carcass traits) ( Dekkers, 2004 ). (intechopen.com)
- Restriction fragment length polymorphism (RFLP) analysis using a multilocus heat-inducible cytoplasmic heat-shock protein 70 (Hsp70) hybridization probe with Eco RI-digested genomic DNA was used in molecular typing of 129 Trichomonas vaginalis isolates. (ajtmh.org)
- Amplified fragment length polymorphism (AFLP) analysis is a rapid and efficient method for producing DNA fingerprints and molecular characterization. (csic.es)
- This paper provides a critical overview and synthesis of the emerging findings on the GHR polymorphisms in relation to GH responsiveness or disease susceptibilities, and the attendant molecular aspects of the characteristic polymorphisms. (eurekaselect.com)
- Proton pump inhibitors (PPIs) are extensively metabolized in the liver by CYP2C19, that demonstrates genetic polymorphism with 21 mutant alleles. (redorbit.com)
- A number of mutant alleles exist that can be detected by genetic testing. (nih.gov)
- Genetic testing is available for all of the known CYP2C variant alleles. (nih.gov)
- Conclusions: Frequency of occurrence of the T and A alleles of CYP2C8*3 (rs10509681) and CYP2C9*2 (rs1799853) polymorphisms was higher in T2DM patients from North India. (psu.edu)
- The cumulative effects of the genetic polymorphisms were investigated using a weighted genotype risk score (wGRS) based on the number of risk alleles and the OR for gout. (jrheum.org)
- We investigated the possible influence of adenylate kinase genetic variability on the effect of maternal smoking on intrauterine selection and development. (biomedsearch.com)
- Genetic factors probably contribute to the substantial variability between individuals in the effects of ozone on lung function and airway inflammation observed in humans. (bmj.com)
- A consequence of the activity of these two systems is the establishment of a potent genetic barrier through a 10 5 -fold reduction in recombination frequency between the two ≈16% divergent genomes, whereas these two systems have no (MMR) or little (SOS) influence on recombination in isogenic crosses. (pnas.org)
- The aims of this study were to determine the frequency of the polymorphisms Ala-9Val and Ile58Thr of the manganese-dependent superoxide dismutase gene in DNA from chagasic and nonchagasic patients and to establish a relationship between these polymorphisms with chronic chagasic cardiomyopathy. (ovid.com)
- In this study we have investigated the frequency of occurrence of two single nucleotide polymorphisms in the CYP gene (CYP2C8*3 and CYP2C9*2) in type 2 diabetes mellitus (T2DM) patients from North India. (psu.edu)
- There was no difference in the frequency of polymorphisms at loci 27 (Gln27 or Glu27) and 164 (Thr164 or Ile164) between the two groups. (jci.org)
- An Analysis of the Impact of Functional Programming Techniques on Genetic Programming , Phd Thesis, University College London, 1999. (springer.com)
- Although various allelic forms of different CYPs have been reported, functional polymorphism has only been established for CYP2A6, CYP2C9, CYP2C19 and CYP2D61. (redorbit.com)
- The incidence of functional polymorphisms is much lower, estimated to be 1/250 in Caucasians and lower in Asians. (nih.gov)
- Furthermore, the higher mutation rate in microsatellites is likely to lead to weaker associations unless the polymorphism itself is functional ( e.g. , the androgen receptor polyglutamine tract and prostate cancer risk). (aacrjournals.org)
- To explore the prevalence and functional importance of LBX1 polymorphisms in patients with AIS within the northern Chinese Han population. (ovid.com)
- In this study we explored the prevalence and functional importance of the polymorphisms around LBX1 in patients with AIS within the northern Chinese Han population. (ovid.com)
- We performed detailed genetic association studies of the functional variant rs5743836 with asthma susceptibility and asthma-related phenotypes in three independent cohorts. (harvard.edu)
- The observed geographic pattern of genetic differentiation and the points of evidence for natural selection and recombination suggest that the functional consequences of the polymorphism should be considered for developing a vaccine based on PfCSP. (springer.com)
Susceptibility to schizophrenia1
Metabolism of the anticonvulsant2
- The polymorphism affects metabolism of the anticonvulsant agent mephenytoin, proton pump inhibitors such as omeprazole, the anxiolytic agent diazepam, certain antidepressants, and the antimalarial drug proguanil. (nih.gov)
- The metabolism of the anticonvulsant mephenytoin is subject to a genetic polymorphism. (uniprot.org)
- Casuistics and Methods: Around 120 patients with HAR will be genotyped for the T-786C eNOS polymorphism, from which the investigators will enroll in this study 15 patients with TT genotype and 15 patients with CC genotype. (clinicaltrials.gov)
- Prompted by the discovery of this easily identifiable polymorphism and findings from recent laboratory studies showing an important role of CYP1B1 in the metabolic activation of estrogens and environmental mammary carcinogens, we evaluated the relation between CYP1B1 genotype and breast cancer risk in a subset of women who participated in the Shanghai Breast Cancer Study. (aacrjournals.org)
- This study aimed to investigate genetic polymorphisms of CYP2D6 among healthy Uygur individuals. (biomedcentral.com)
- Genetic polymorphisms of CYP2D6 could greatly affect CYP2D6 activity and lead to differences among individuals in drug efficacy or side effects. (biomedcentral.com)
- We detected 62 genetic polymorphisms of CYP2D6, 16 of which were novel SNP with three novel non-synonymous mutations detected for the first time. (biomedcentral.com)
- Our results provided basic information about CYP2D6 polymorphisms, suggested that the enzymatic activities of CYP2D6 might be different within the Uygur ethnic group, and provide a basis for safer drug administration and better therapeutic treatment of Uygur individuals. (biomedcentral.com)
- At present, there is no comprehensive system for the study of CYP2D6 polymorphisms in the Uygur population of China. (biomedcentral.com)
- We hoping to identify characteristics of the genetic polymorphisms of CYP2D6 and provide reasonable recommendations pertaining to the safer administration of drugs dependent on CYP2D6 in the Uygur population. (biomedcentral.com)
- Genetic polymorphism refers to the occurrence of two or more genetically determined phenotypes in a certain population (in proportions that the rarest of the characteristics cannot be maintained just by recurrent mutation). (thebalance.com)
- Patients and methods: Polymorphisms of five RAAS components were determined in 26 gene carriers from a single family with HCM caused by a previously identified myosin binding protein C mutation. (bmj.com)
- Conclusion: Genetic polymorphisms of the RAAS influence penetrance and degree of LVH in 26 gene carriers from one family with HCM caused by a myosin binding protein C mutation. (bmj.com)
- This change creates an Eco57 I restriction site, making detection of this polymorphism in large epidemiological studies cost efficient. (aacrjournals.org)
- Besides, we evaluate liver and renal function, lipid profile, and diagnosis of Chagas disease and genetic polymorphisms by polymerase chain reaction-restriction fragment length polymorphism. (ovid.com)
- Therefore, the objective of the present study is to examine the influence of a genetic variant (known to affect NOS3 levels) in sildenafil acute effects on hemodynamic and cardiovascular function. (clinicaltrials.gov)
- The investigators hypothesis is that individuals with the genetic variant associated to higher levels of NOS3 will have more benefits from sildenafil treatment. (clinicaltrials.gov)
- A recent genome-wide association study indicated a suggestive association of LRRK2 genetic variant rs1873613 with leprosy in Chinese population. (sigmaaldrich.com)
- In this study we have typed for the 3′UTR polymorphism in a series of necropsy confirmed AD cases and age matched non-demented controls to see if we could confirm an association between this polymorphism and sporadic AD, and thus give further support for the role of this genetic variant as a risk factor in AD. (bmj.com)
- A method and a package for identifying single nucleotide polymorphisms in complement receptor is useful in identifying individual susceptibility to a disease. (google.com)
- The present invention relates generally to compounds and methods for identifying polymorphism in a cellular receptor, and more particularly, to compounds and methods for identifying and typing single nucleotide polymorphisms that code for a complement receptor and applying these polymorphisms to delineation of disease susceptibility and severity. (google.com)
- We have identified 645,088 candidate polymorphisms in zebrafish and observe a single nucleotide polymorphism (SNP) validation rate of 71% to 86%, improving with polymorphism confidence score. (nih.gov)
- Then statistical analysis will be pursued for single marker analysis, haplotype analysis and for the construction of genetic risk model based on the multivariate analysis. (bioportfolio.com)
- The inability to undergo genetic recombination with each other isolates related species independently of geographic isolation. (pnas.org)
- Furthermore, AFLP typing was able to allocate serologically nontypeable isolates to appropriate genetic groups within the species. (asm.org)
- Alignment of TRAP-C2 nucleotide positions that show polymorphism among Cryptosporidium parvum isolates from human and nonhuman sources. (cdc.gov)
- These results are an important contribution to understanding the interactions between genetic and environmental factors that may modify the risk of asbestosis. (srce.hr)
- To further investigate the role of the environmental and genetic factors in the formation of ESCC in this endemic area, in this study we focused on inflammation pathway and interactions between gene-gene and gene-environment. (aacrjournals.org)
- Genetic analysis reveal significant and consistent pairwise interactions between common non-coding LOXL1 polymorphisms. (arvojournals.org)
- Multivariate analysis controlling for age, sex, and hypertension confirmed an independent association between the presence of pro-LVH polymorphisms and left ventricular mass. (bmj.com)
- these associations, with the exception of cardiac chymase A AA polymorphism (p = 0.06), remained significant in multivariate analysis. (bmj.com)
- Based on the analysis of a series of experimental results, we conclude that this implementation of polymorphism is effective in assisting GP evolutionary search to generate these two programs. (springer.com)
- Alonso A, Martfn P, Albarran C, Sancho M (1993) Amplified fragment length polymorphism analysis of the VNTR locus D1S80 in central Spain. (springer.com)
- Chuah SY, Tan WF, YAp KH, Tai HE, Chow ST (1994) Analysis of the D1S80 locus by amplified fragment length polymorphism technique in the Chinese, Malays and Indians in Singapore. (springer.com)
- Nosikov W, Chistyakov DA, Gavrilov DK, Ovchinnnikov IV, Chelnokova MV (1992) Analysis of PCR-based VNTR polymorphism within an East Slavonic population. (springer.com)
- Moreover, all examined C. africana strains lack N -acetylglucosamine assimilation and sequence analysis of the HXK1 gene showed a distinctive polymorphism that impair the utilization of this amino sugar in this yeast. (frontiersin.org)
- Amplified fragment length polymorphism fingerprint analysis yielded greater genotypic heterogeneity among the C. africana strains. (frontiersin.org)
- In the comparative genomic analysis carried out this time, it was clarified that there exist many ancestral polymorphisms in cichlid genomes. (titech.ac.jp)
- Survival tree analysis also identified a higher-order genetic interaction profile consisting of MMP2 rs243866 and MMP2 rs2285053 that was significantly associated with distant metastasis-free survival ( P trend = 0.016). (medsci.org)
- These observations together and segregation analysis of Japanese families of gastric cancel suggest existence of genetic predisposition in human common cancers and elucidation of these issues will facilitate a launch of so-called tailor made prevention and medicine. (nii.ac.jp)
- Hence, association has been found between the genetic polymorphism of CYP2C19 and therapeutic response to PPIs. (redorbit.com)
- LONDON It will be possible to unravel the causative mechanisms of many diseases that have been the subject of genomewide association studies by carrying out genetic investigations in mice, researchers in Scandinavia suggested. (bioworld.com)
- Recently, two genome-wide association studies found that phospholipase C epsilon 1 (PLCE1) polymorphisms might be related to GC risk, and several studies further validated this finding. (sigmaaldrich.com)
- Association of the LRRK2 genetic polymorphisms with leprosy in Han Chinese from Southwest China. (sigmaaldrich.com)
- To validate the association between genetic polymorphisms and gout in Japanese patients, and to investigate the cumulative effects of multiple genetic factors on the development of gout. (jrheum.org)
- Common genetic polymorphisms within LOXL1 show the strongest evidence of association to date. (arvojournals.org)
- A genome wide association study (GWAS) approach was used to complete a genomic scan of 719,665 polymorphisms. (edu.au)
- However, variations have sometimes been observed to exist in a population after the set time period as polymorphisms, and which thereafter diverge and are sorted to the descendant groups, and this is called ancestral polymorphism. (titech.ac.jp)
- These results suggest that genetic variations in the MMP2 might be potential predictors of distant metastasis-free survival after curative surgery. (medsci.org)
- Proceedings of the Conference on Genetic Polymorphisms and Geographic Variations in Disease. (annals.org)
- The N-terminal and C-terminal non-repeat regions of Myanmar PfCSP showed limited genetic variations. (springer.com)
- Genetic variations of four highly polymorphic serum proteins, TF, PI, F13B, and AHSG, were tested to distinguish one black African and one Khoisan population of southwest Africa. (biomedsearch.com)
- Germline genetic variations may affect drug clearance therefore response. (edu.au)
- This epidemiological study thus provides evidence of a gene-by-environment interaction, in which an individual's response to environmental insults is moderated by his or her genetic makeup. (labome.org)
- This study investigates whether CAT -262 C>T genetic polymorphism influences the risk of asbestosis in workers occupationally exposed to asbestos. (srce.hr)
- In the present study, we obtained population genetic data and forensic parameters of 30 InDel loci in Chinese Xibe ethnic group from northwestern China and studied the genetic relationships between the studied Xibe group and other reference groups. (nature.com)
- The main objective of the study was to determine the genetic relationship between farmer-preferred varieties from Mozambique with those from Tanzania whose resistance to CBSD is known and some of which are being used as parents in quantitative trait loci (QTL) detection studies. (cambridge.org)
- This study establishes a high-throughput transcriptome and genetic-marker infrastructure. (plos.org)
- This is the first study to report the correlation between GAS5 gene polymorphism and prostate cancer prognosis. (medsci.org)
- This study clearly establishes a combined effect of MTHFR gene polymorphism and serum B vitamins levels on cognition in Chinese adults. (mdpi.com)
- the aim of our study was to investigate the influence of polymorphism (rs 4994) in Beta-3-adrenergic receptor gene on metabolic response and weight loss in a medium-term intervention study secondary's to a high protein/low carbohydrate vs. a standard hypocaloric diets (1000 kcal/day). (isciii.es)
- The objectives of this study were to determine whether similar differences exist between African-Americans and European-Americans, and to identify genetic polymorphisms that could explain these potential differences. (aspetjournals.org)
- Methods: A retrospective case-control study in which polymerase chain reaction (PCR) methodology was employed to identify associations between ACE I/D and MTHFR C677T polymorphisms and AAA. (bl.uk)
- Conclusion: The ACE I/D and MTHFR C677T genetic polymorphisms were not independently associated with AAA in this study. (bl.uk)
- CYP2C19 polymorphism affected eradication of Helicobacter pylori using diferent PPI based eradication therapies as PM patients demonstrated significantly higher eradication rates compared to EMs. (redorbit.com)
- Genetic polymorphism affects plasma concentration of antiretroviral therapy in HIV patients. (clinicaltrials.gov)
- The potential involvement of N-acetyltransferase 1 (NAT1) genetic polymorphisms in prostate cancer (PCa) patients was analyzed in 101 patients with PCa and 97 controls with no incidental malignancy. (nih.gov)
- Objective: To examine the influence of the T-786C polymorphism of eNOS gene in sildenafil acute effects on hemodynamic and cardiovascular function in resistant hypertensives patients. (clinicaltrials.gov)
- Hypothesis: The investigators hypothesize that the sildenafil, besides the anti-ischemic effect, will improve the patients hemodynamic status and, moreover, that it will occur a modulation of this effect by the T-786C polymorphism. (clinicaltrials.gov)
- The effect of CYP polymorphisms on the clinical outcomes in patients treated with prasugrel remains unknown. (ahajournals.org)
- We have accumulated evidence that autoimmune antibodies observed in sera of patients with tienilic acid induced hepatitis (anti-liver kidney microsome 2 or anti-LKM2 antibodies) specifically recognize the cytochrome P-450 involved in the mephenytoin hydroxylation polymorphism. (uniprot.org)
- The distribution of TNF-α (-308G/A) and TNF-β (+252A/G) polymorphisms was almost similar in schizophrenia patients with negative or positive symptoms. (dovepress.com)
- Overall, data presented in this thesis add to increasing evidence that germline polymorphisms can affect drug disposition in EOC patients. (edu.au)
- The extent of genetic recombination is a key determinant and a measure of genetic isolation. (pnas.org)
- The results reported here reveal that genetic barriers can be established, eliminated, or modified by manipulating two systems which control genetic recombination, SOS and mismatch repair. (pnas.org)
- A species may be defined as a population of organisms capable of sharing their gene pool through mating and genetic recombination. (pnas.org)
- In yeast, DNA sequence divergence inhibits both intra- and interchromosomal recombination in mitosis and meiosis through the activities of MutS and MutL homologs ( 3 - 6 ), implying mechanisms of genetic barriers similar to those studied in bacteria (see also ref. 7 for effects of mouse MutS homolog on mitotic recombination in mice). (pnas.org)
- However, the combined effects of MTHFR and SLC19A1gene polymorphism with serum folate and vitamin B 12 levels on cognition in Chinese adult population remain unclear. (mdpi.com)
- Conclusion: Cognition of adults was associated with MTHFR, SLC19A1 gene polymorphism and serum Hcy levels. (mdpi.com)
- genetic polymorphism, blood serum prealbumins. (media.pl)
- Combining my extensive knowledge of animal coloration with my host laboratory's track record in biodiversity research and genomics, this project offers a unique window into the evolution of supergenes and polymorphisms and provides the European research community with a valuable genomic resource. (europa.eu)
Influences the risk1
- However, the clinical consequences of these rarer polymorphisms can be severe. (nih.gov)
- The C statistic for the model using genetic information alone was 0.72, while the C statistic was 0.81 for the full model that incorporated all genetic and clinical factors. (jrheum.org)
- A prediction model for gout that incorporates genetic and clinical factors may be useful for identifying individuals who are at risk of gout. (jrheum.org)
- The extent of genetic isolation between enterobacteria is a simple mathematical function of DNA sequence divergence. (pnas.org)
- Specifically, compared to ancestor species living in the rivers, the genomes of the cichlid fish that live in the 3 great lakes had remarkable gene duplication (3) , coding sequence diversification in the gene coding region (4) , and genetic expression divergence associated with transposable element (5) insertions. (titech.ac.jp)
- Other practical limitations include potential misidentifications as a result of multiple but different copies of the 16S rRNA gene in species such as Nocardia nova ( 7 , 9 ) and/or the presence of intraspecies 16S rRNA gene sequence polymorphisms (or "sequence types" [STs]) in N. nova , Nocardia cyriacigeorgica , and other species ( 14 , 21 ). (asm.org)
- in other words, how diverged must two genomes be for an efficient genetic barrier to be established? (pnas.org)
- Mobile genetic elements (MGEs) are commonly present in bacterial genomes and may affect SNP subtyping results if their evolutionary history and dynamics differ from that of the bacterial chromosomes. (asm.org)