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.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
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.
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.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
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.
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.
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.
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.
Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.
Genotypic differences observed among individuals in a population.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
An individual in which both alleles at a given locus are identical.
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.
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.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A flavoprotein amine oxidoreductase that catalyzes the reversible conversion of 5-methyltetrahydrofolate to 5,10-methylenetetrahydrofolate. This enzyme was formerly classified as EC
Individuals whose ancestral origins are in the continent of Europe.
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.
A country spanning from central Asia to the Pacific Ocean.
An individual having different alleles at one or more loci regarding a specific character.
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.
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.
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.
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.
Any method used for determining the location of and relative distances between genes on a chromosome.
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).
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.
Biochemical identification of mutational changes in a nucleotide sequence.
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.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
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
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.
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.
Enzyme that catalyzes the movement of a methyl group from S-adenosylmethionone to a catechol or a catecholamine.
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.
The relationships of groups of organisms as reflected by their genetic makeup.
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.
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).
A branch of genetics which deals with the genetic variability in individual responses to drugs and drug metabolism (BIOTRANSFORMATION).
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.
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.
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.
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.
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).
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
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.
The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome.
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.
Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.
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.
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.
Methods used to determine individuals' specific ALLELES or SNPS (single nucleotide polymorphisms).
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.
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.
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.
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.
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.
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.
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.
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.
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
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
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.
Inhaling and exhaling the smoke of burning TOBACCO.
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.
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.
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)
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.
A group of people with a common cultural heritage that sets them apart from others in a variety of social relationships.
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.
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.
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).
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.
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.
Genetic loci associated with a QUANTITATIVE TRAIT.
Identification of genetic carriers for a given trait.
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.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
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
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.
A country in northern Africa between ALGERIA and LIBYA. Its capital is Tunis.
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.
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.
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.
The sequence at the 3' end of messenger RNA that does not code for product. This region contains transcription and translation regulating sequences.
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.
Tumors or cancer of the human BREAST.
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.
Deoxyribonucleic acid that makes up the genetic material of plants.
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
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.
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.
The combined effects of genotypes and environmental factors together on phenotypic characteristics.
Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.
Tumor suppressor genes located on the short arm of human chromosome 17 and coding for the phosphoprotein p53.
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.
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.
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.
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.
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.
A subtype of dopamine D2 receptors that has high affinity for the antipsychotic CLOZAPINE.
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.
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.
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 present in neoplastic tissue.
Tumors or cancer of the LUNG.
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.
Enzymes that catalyze reversibly the formation of an epoxide or arene oxide from a glycol or aromatic diol, respectively.
Tumors or cancer of the STOMACH.
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)
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).
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.
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.
Parliamentary democracy located between France on the northeast and Portugual on the west and bordered by the Atlantic Ocean and the Mediterranean Sea.
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.
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.
Persons living in the United States having origins in any of the black groups of Africa.
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.
One of the Type II site-specific deoxyribonucleases (EC 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.-.
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.
Deletion of sequences of nucleic acids from the genetic material of an individual.
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.
The systematic study of the complete DNA sequences (GENOME) of organisms.
The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.
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.
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).
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.
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)
The genetic complement of a plant (PLANTS) as represented in its DNA.
Created 1 January 1993 as a result of the division of Czechoslovakia into the Czech Republic and Slovakia.
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.
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 sequences encoding RIBOSOMAL RNA and the segments of DNA separating the individual ribosomal RNA genes, referred to as RIBOSOMAL SPACER DNA.
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.
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)
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.
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.
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)
Deoxyribonucleic acid that makes up the genetic material of protozoa.
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.
Transport proteins that carry specific substances in the blood or across cell membranes.
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).
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.
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.
A thiol-containing amino acid formed by a demethylation of METHIONINE.
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)
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 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.
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 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.
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.
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.
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.
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.
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.
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.
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.
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.
An enzyme that catalyzes the oxidation and reduction of FERREDOXIN or ADRENODOXIN in the presence of NADP. EC was formerly listed as EC and EC
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.
Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause.
Databases devoted to knowledge about specific genes and gene products.
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).
A pyrimidine base that is a fundamental unit of nucleic acids.
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)
A statistical technique that isolates and assesses the contributions of categorical independent variables to variation in the mean of a continuous dependent variable.
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.
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.
The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.
Partial cDNA (DNA, COMPLEMENTARY) sequences that are unique to the cDNAs from which they were derived.
A malignant epithelial tumor with a glandular organization.
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.
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.
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.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
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.
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.
A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)
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.
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)
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.
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).
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.
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.
Tumors or cancer of the PROSTATE.
The functional hereditary units of PLANTS.

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)

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 ...
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%), ...
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 [22]. 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 [23]. 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 ...
title: RANTES gene promoter polymorphisms are associated with bronchial hyperresponsiveness in Korean children with asthma, doi: 10.1007/s00408-007-9049-3, category: Article
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 ...
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 ...
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 ...
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
Collectively, these findings show that the Q705K polymorphism in NLRP3 is a gain-of-function alteration leading to an overactive NLRP3 inflammasome. The option of IL-1β blockade may be considered in patients with chronic inflammatory disorders that are unresponsive to conventional treatments.
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. ...
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 ...
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 ...
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 : Patient DNA was evaluated for the PAI-1 4G/5G promoter polymorphism, which is a single base pair guanine (4G/5G) deletion/insertion polymorphism, using polymerase chain reaction (PCR) technology and restriction fragment length polymorphism (RFLP).
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
TY - JOUR. T1 - Biochemical analysis of the human DMC1-I37N polymorphism. AU - Hikiba, Juri. AU - Takizawa, Yoshimasa. AU - Ikawa, Shukuko. AU - Shibata, Takehiko. AU - Kurumizaka, Hitoshi. PY - 2009/1. Y1 - 2009/1. N2 - The DMC1 protein, a meiosis-specific DNA recombinase, promotes homologous pairing and strand exchange. The I37N single nucleotide polymorphism of the human DMC1 protein was reported as a result of human genome sequencing projects. In this study, we purified the human DMC1-I37N variant, as a recombinant protein. The DMC1 protein is known to require DNA for efficient ATP hydrolysis. By contrast, the DMC1-I37N variant efficiently hydrolyzed ATP in the absence of DNA. Like the conventional DMC1 protein, the DMC1-I37N variant promoted strand exchange, but it required a high Ca2+ concentration (4-8 mm), a condition that inactivates the strand-exchange activity of the conventional DMC1 protein. These biochemical differences between the DMC1 and DMC1-I37N proteins suggest that the ...
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 ...
Diabetes is a heterogeneous disease where many factors are involved in its pathogenesis. The genotype frequency of Catalase (CAT) microsatellite polymorphism in patients with Type 1-Diabetes (T1DM) was analysed.
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.
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.
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.
You searched for: Author Jiang, Gaofeng Remove constraint Author: Jiang, Gaofeng Author Zhang, Haijun Remove constraint Author: Zhang, Haijun Author Liu, Hang Remove constraint Author: Liu, Hang Type Articles Remove constraint Type: Articles Subject Genomics Remove constraint Subject: Genomics Subject Genetic polymorphisms Remove constraint Subject: Genetic polymorphisms ...
You searched for: Author Zhang, Haijun Remove constraint Author: Zhang, Haijun Author Liu, Hang Remove constraint Author: Liu, Hang Type Articles Remove constraint Type: Articles Language English Remove constraint Language: English Subject Genetic polymorphisms Remove constraint Subject: Genetic polymorphisms Subject Leukemia Remove constraint Subject: Leukemia ...
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 ...
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 ...
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 ...
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;
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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 ...
Wang HM, Zhang XY, Jin B. TERT genetic polymorphism rs2736100 was associated with lung cancer: a meta-analysis based on 14,492 subjects. Genetic Testing and Molecular Biomarkers 2013; 17(12): 937- ...
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 …
Natsuume, sakai S.; Hayakawa, J; and Takahashi, M, Genetic polymorphism of murine c3 controlled by a single co-dominant locus on chromosome 17. (1978). Subject Strain Bibliography 1978. 3192 ...
Fingerprint Dive into the research topics of The roles of stromelysin-1 and the gelatinase B gene polymorphism in stable angina. Together they form a unique fingerprint. ...
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 ...
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 ...
In patients with a genetic predisposition, associations of the mutant variantsArg25Pro of the TGFb1 gene, A-8202G of the MMP9 gene and MMP1 1607G (9.6%),associations of the mutations of the Arg25Pro gene of the TGFb1 gene, and A-8202G ofthe MMP9 gene (5.8%) are mainly detected, associations of mutations of Arg25Pro genesof TGFb1 and MMP1 1607G (3.8%), associations of mutations of A-8202G genes ofMMP9 and MMP1 1607G (15.4%) of the examined patients with photo-aging.
We investigated the relationship between the distribution of the IL-1RN, TNF-beta and IL-4 polymorphism and the clinical features of bladder cancer. ...
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 = ...
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 ...
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 , ...
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 ...
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 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. ...
TY - JOUR. T1 - Angiotensin-converting enzyme gene polymorphism in patients with psoriatic arthritis. AU - Al-Awadhi, Adel M.. AU - Hasan, Eman A.. AU - Sharma, Prem. AU - Haider, M. Zafaryab. AU - Al-Saeid, Khaled. PY - 2007/10/1. Y1 - 2007/10/1. N2 - To investigate the frequency of angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism genotypes in adults with psoriatic arthritis (PsA), a heterogeneous chronic disease with autoimmune pathology. ACE gene I/D polymorphism influences the plasma and tissue levels of ACE and has an involvement in inflammatory mechanism. The frequency of ACE gene I/D polymorphism genotypes was determined in 51 adults with PsA from Kuwait, and compared to that in 100 ethnically matched healthy controls using polymerase chain reaction. The distribution of ACE I/D polymorphism and allele frequencies in PsA patients were not significantly different from controls (P , 0.05). Further analyses of PsA patients showed that ACE I/D gene polymorphism ...
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 ...
ABSTRACT. The study of ACE gene I/D polymorphism has been carried out in elderly, senile and long-liver patients with coronary heart disease (CHD) taking into account their nationality, age and sex. It has been recorded that with the increase of age there is a decrease in the frequency of the genotype ACE*I/*I and a tendency of increase in the frequency of the genotype ACE*D/*D. A comparative analysis of genotypes АСЕ*D/*D and АСЕ*D/*I has showed sex differences in the frequency of homozygous genotype detection. Left ventricular hypertrophy can be observed significantly more often among carriers of genotype ACE*I/*I established by Sokolow-Lyon ECG signs. Association analysis of ACE gene I/D polymorphism has registered significant differences in BMI and blood lipid parameters.. KEYWORDS. CHD; Geriatric Age; Risk Factors; ACE Gene; Non-Indigenous and Yakut Patients. 1. INTRODUCTION. Republic of Sakha (Yakutia) is the biggest region in the Russian Federation with the territory of over 3 ...
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 ...
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 ...
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 ...
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 ...
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 - UR - M3 - Article. C2 - 7668265. AN - SCOPUS:0029013276. VL - 57. SP - 388. EP - 394. JO - American Journal ...
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 ...
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 ...
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
Saha, N.,Tay, J.S.H.,Basair, J.,Talmud, P.J.,Humphries, S.E. (1996). Lack of association of angiotensin-converting enzyme (ACE). Gene insertion/deletion polymorphism with CAD in two Asian populations. Clinical Genetics 50 (3) : 121-125. [email protected] Repository ...
Background: MDM2 (Murine Double Minute2) is an oncoprotein that inhibits the P53 activity. Overexpression of MDM2 gene has been reported in several human tumors. In the present study, we aimed to evaluate the impact of 40-bp insertion/deletion (ins/del) polymorphism on the promoter of MDM2 and susceptibility to breast cancer in ...
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 ...
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). ...
Effect of genetic polymorphisms on Alzheimers disease treatment outcomes: an update Riyadi Sumirtanurdin,1 Amirah Y Thalib,1 Kelvin Cantona,1 Rizky Abdulah1,2 1Department of Pharmacology and Clinical Pharmacy, Faculty of Pharmacy, Universitas Padjadjaran, Jatinangor, Indonesia; 2Center of Excellence in Higher Education for Pharmaceutical Care Innovation, Universitas Padjadjaran, Jatinangor, Indonesia Abstract: Genetic variations in individuals may cause differences in the response to cholinesterase inhibitor drugs used in the treatment of Alzheimers disease (AD). Through this review, we aimed to understand the potential relationship between genetic polymorphisms and treatment response in AD. We conducted a systematic review of the studies published from 2006 to 2018 that assessed the relationship between genetic polymorphisms and the pharmacotherapeutic outcomes of patients with AD. Via several possible mechanisms, genetic polymorphisms of many genes, including ABCA1, ApoE3, CYP2D6, CHAT, CHRNA7, and
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 ...
TY - JOUR. T1 - Effects of base excision repair gene polymorphisms on pancreatic cancer survival. AU - Li, Donghui. AU - Li, Yanan. AU - Jiao, Li. AU - Chang, David Z.. AU - Beinart, Garth. AU - Wolff, Robert A.. AU - Evans, Douglas B.. AU - Hassan, Manal M.. AU - Abbruzzese, James L.. PY - 2007/4/15. Y1 - 2007/4/15. N2 - To explore the association between single nucleotide polymorphisms of DNA repair genes and overall survival of patients with pancreatic cancer, we conducted a study in 378 cases of pancreatic adenocarcinoma who were treated at The University of Texas M. D. Anderson Cancer Center between February 1999 and October 2004 and were followed up to April 2006. Genotypes were determined using genomic DNA and the MassCode method. Overall survival was analyzed using the Kaplan-Meier plot, log-rank test and Cox regression. We observed a strong effect of the POLB A165G and T2133C genotypes on overall survival. The median survival time (MST) was 35.7 months for patients carrying at least 1 ...
Background: Polymorphism of NFKB1 and NFKB1A are highly associated with cancer. We have assessed polymorphism in the promoter region of NFKB1 -94 del/ins ATTG (rs28362491) and NFKB1A -826 C/T (rs2233406) with the risk of HNSCC in Indian population. Methods: Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used for the genotyping NFKB1 -94 del/ins ATTG and NFKB1A -826 C/T. Sequencing was done to validate the results of PCR-RFLP. Statistical analysis of data was done by Stata/SE-14.0 software. Results: ins/ins genotype was observed to be a risk factor of HNSCC as compared del/del genotype of NFKB1 -94 ATTG. Interactive effects of smoking and chewing on ins/ins genotype showed 13.96 and 10.92 fold increased risk of HNSCC. NFKB1A -826 C/T polymorphism, TT genotype showed no association with the risk of HNSCC as compared to wild type CC genotype. Conclusion: Our results showed NFKB1 -94 del/ins ATTG with smoking and tobacco chewing may increase the risk of HNSCC
Coronary artery disease (CAD) is a multifactorial disease influenced by genetic and environmental factors. Major risk factors of CAD are hypertension, hyperlipidemia, smoking, family history and obesity. Also polymorphisms in the angiotensin-I converting enzyme (ACE) gene can associate with CAD. The relationship between ACE polymorphisms and other risk factors is not well understood in CAD, likely due to the complex interrelation of genetic and environmental risk factors. The aim of this study was to investigate the associations of CAD risk factors and ACE polymorphisms in patients with CAD. We enrolled 203 consecutive patients and 140 healthy subjects in the study. The severity of CAD was evaluated according to the number of vessels with significant stenosis. ACE insertion (I)/deletion (D) genotype was determined by PCR. The frequency of the DD genotype was significantly higher in patients. D allele frequency was higher among CAD subjects when compared to the control group. The number of ...
It is uncertain whether smoking is related to colorectal cancer risk. Cytochrome P-450 CYP1A1, glutathione-S-transferase (GST) and NAD(P)H:quinone oxidoreductase 1 (NQO1) are important enzymes in the metabolism of tobacco carcinogens, and functional genetic polymorphisms are known for these enzymes. We investigated the relation of cigarette smoking and related genetic polymorphisms to colorectal cancer risk, with special reference to the interaction between smoking and genetic polymorphism. We used data from the Fukuoka Colorectal Cancer Study, a population-based case-control study, including 685 cases and 778 controls who gave informed consent to genetic analysis. Interview was conducted to assess lifestyle factors, and DNA was extracted from buffy coat. In comparison with lifelong nonsmokers, the odds ratios (OR) of colorectal cancer for |400, 400-799 and ≥800 cigarette-years were 0.65 (95% confidence interval [CI], 0.45-0.89), 1.16 (0.83-1.62) and 1.14 (0.73-1.77), respectively. A decreased risk
Background: The prevalence of genetic association studies in the literature has increased exponentially over the past decade. Most are cross-sectional studies that present unique methodological challenges and risks of bias; they should be appraised accordingly when included in systematic reviews and meta-analyses. Objectives: To develop a method for assessing risk of bias in genetic association studies and demonstrate its use in a review of the association between a genetic polymorphism (CYP2B6*6) and metabolism of a drug (methadone plasma concentration). Methods: We searched Medline, EMBASE, CINAHL, PsycINFO, and Web of Science databases. Two independent reviewers included studies that reported methadone plasma concentration and the CYP2B6*6 polymorphism. Results: We modified the Newcastle-Ottawa Scale to assess the risk of bias in studies of the effect of genetic polymorphisms on drug metabolism. We removed several categories highlighting the comparability of cohort or case/control selection ...
Insulin-dependent diabetes mellitus (IDDM), cardiovascular morbidity, and vital prognosis are linked to diabetic nephropathy, which is probably determined by renal hemodynamic abnormalities and by a genetic predisposition. Angiotensin I converting enzyme (ACE) regulates systemic and renal circulations through angiotensin II formation and kinins metabolism. Plasma and cellular ACE levels are genetically determined; an insertion/deletion polymorphism of the ACE gene is strongly associated with ACE levels, subjects homozygote for insertion (genotype II) having the lowest plasma values. We studied the relationship between the ACE gene polymorphism or plasma levels and microcirculatory disorders of IDDM through two independent studies: one involved 57 subjects with or without diabetic retinopathy, and the other compared 62 IDDM subjects with diabetic nephropathy to 62 diabetic control subjects with the same characteristics (including retinopathy severity) but with normal kidney function. The ACE ...
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 ...
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 ...
OBJECTIVE: To determine whether transforming growth factor beta1 (TGFbeta1) gene DNA polymorphism is associated with pathogenesis in the fibrosis of patients with systemic sclerosis (SSc). METHODS: Eighty-seven Japanese patients with SSc including 30 with diffuse type and 57 with limited type together with 110 unrelated controls were investigated. Pulmonary fibrosis was determined in 34 SSc patients using high-resolution chest computed tomography. TGFbeta1 genetic polymorphisms were analyzed in 2 loci; T869C (Leu10Pro) in codon 10 at exon 1, and C-509T in the promoter region using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). RESULTS: Neither the genotype of T/C polymorphism in T869C nor C/T polymorphism in C-509T revealed any difference in distribution between SSc and controls. In the group of SSc patients with pulmonary fibrosis, a weak but significantly high frequency (p = 0.05) of TC+CC (the presence of C allele) in T869C, and CT+TT (the presence of T allele) ...
Several studies on the association of TNF-alpha (−308 G/A), IL-6 (−174 G/C) and IL-1beta (−511 C/T) polymorphisms with polycystic ovary syndrome (PCOS) risk have reported conflicting results. The aim of the present study was to assess these associations by meta-analysis. A total of 14 eligible articles (1665 cases/1687 controls) were included in this meta-analysis. The results suggested that there was no obvious association between the TNF-alpha (−308 G/A) polymorphism and PCOS in the overall population or subgroup analysis by ethnicity, Hardy-Weinberg equilibrium (HWE) in controls, genotyping method, PCOS diagnosis criteria, and study sample size. Also, no obvious association was found between the TNF-alpha (−308 G/A) polymorphism and obesity in patients with PCOS (body mass index [BMI] ≥ 25 kg/m2 vs. BMI | 25 kg/m2). Regarding the IL-6 (−174 G/C) polymorphism, also no association was found in the overall population in heterozygote comparison, dominant model, and recessive model. Even
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 ...
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 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 ...
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 related cytokines: susceptibility to vitiligo ...
Several studies have suggested that Insertion/Deletion polymorphism of ApoB gene is associated with obesity, dyslipidemia, diabetes and coronary heart disease (CHD).
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. [16] also described the association between the polymorphism and fibrosis intensity, including nonalcoholic steatohepatitis. Later, this polymorphism was revealed to ...
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.
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, ...
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. AU - Knight, Julia A.. AU - Glendon, Gord. AU - Mulligan, Anna Marie. AU - Broeks, Annegien. AU - ...
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
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 C[3953]T, IL-4 C[33]T, 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 ...
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.
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 ...
BioMed Research International is a peer-reviewed, Open Access journal that publishes original research articles, review articles, and clinical studies covering a wide range of subjects in life sciences and medicine. The journal is divided into 55 subject areas.
Genetic polymorphism[edit]. This is an interesting possibility that can be worked into the article if we can find some other ... Nagashima M, Katoh R, Sato Y, Tagami M, Kasai S, Ikeda K (2007). "Is there genetic polymorphism evidence for individual human ...
Genetic polymorphism. Faber & Faber, London. *^ Kenrick, D.T.; Sadalla, E.K.; Groth, G.; Trost, M.R. (1990). "Evolution, traits ... Genetic basis of personality[edit]. Ever since the Human Genome Project allowed for a much more in depth understanding of ... Polymorphisms, such as gender and blood type, are forms of diversity which evolve to benefit a species as a whole.[47] The ... genetic influence on personality. The human genome is known to play a role in the development of personality.. Previously, ...
Ford, E.B. (1965). Genetic polymorphism. London: Faber & Faber. ISBN 978-0262060127. .. ... Polymorphism[edit]. Polymorphism refers to the occurrence of structurally and functionally more than two different types of ... Miller, D.J.; Ball, E.E. & Technau, U. (October 2005). "Cnidarians and ancestral genetic complexity in the animal kingdom". ...
Ford, E.B. (1965). Genetic polymorphism. London: Faber & Faber. ISBN 0262060124.. *^ Dunn, Casey W.; Wagner, Günter P. (16 ... Polymorphism[edit]. Polymorphism refers to the occurrence of structurally and functionally more than two different types of ... Miller, D.J.; Ball, E.E. & Technau, U. (October 2005). "Cnidarians and ancestral genetic complexity in the animal kingdom". ...
Nei, Masatoshi (1984). G. S. Mani (ed.). Genetic Polymorphism and Neomutationism. Evolutionary Dynamics of Genetic Diversity. ... Fisher's explanation of polymorphism, 1927[edit]. In 1927, Fisher explicitly attacked Punnett's 1915 theory of discontinuous ... large-scale genetic changes capable of producing a new subspecies, or even species, instantaneously.[1] ... The different forms existed in a stable polymorphism controlled by 2 Mendelian factors (genes). The alleles of these genes were ...
Genetic polymorphism, p26, Heterozygous advantage. MIT Press 1965. *^ Bertram, Jason; Masel, Joanna (20 March 2019). "Different ... Polymorphisms maintained by this mechanism are balanced polymorphisms.[3] Due to unexpected high frequencies of heterozygotes, ... In this way genetic polymorphism is conserved.[2] Evidence for balancing selection can be found in the number of alleles in a ... Chromosome polymorphism in Drosophila[edit]. In the 1930s Theodosius Dobzhansky and his co-workers collected Drosophila ...
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 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 ...
Genetic polymorphism and natural selection give rise to otherwise edible species (the mimic) gaining a survival advantage by ... Ford, E. B. (1965). "Genetic polymorphism". Proceedings of the Royal Society of London. Series B, Biological Sciences. Oxford ... 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 ...
Polymorphism and taxonomy. In Huxley J. The new systematics. Oxford University Press. Ford E.B. 1965. Genetic polymorphism. All ... By the time Ford had developed his formal definition of genetic polymorphism, Fisher had got accustomed to high natural ... Antibiotic resistance Genetic monitoring Peppered moth, Biston betularia, Pesticide resistance Polymorphism (biology) Vaishnav ... Samples of natural populations may be taken back to the laboratory for their genetic variation to be analyzed. Changes in the ...
Genetic polymorphism, p17-25. MIT Press 1965. Ford E.B. 1975. Ecological genetics. 4th ed, Chapman & Hall. London. Detlefsen J. ... Pin and thrum morphs of Primula have effects on genetic compatibility (pin style x thrum pollen, or thrum style x pin pollen ... Purcell, Jessica; Brelsford, Alan; Wurm, Yannick; Perrin, Nicolas; Chapuisat, Michel (November 2014). "Convergent Genetic ... The case for the accumulative origin for supergenes was originally based on the work of Nabours on polymorphism for colour and ...
Nei, Masatoshi (1984). G. S. Mani (ed.). Genetic Polymorphism and Neomutationism. Evolutionary Dynamics of Genetic Diversity. ... 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". ...
Genetic polymorphism. MIT Press. p26, Heterozygous advantage.. *↑ Maynard Smith J. 1998. Evolutionary genetics. Oxford. p75 and ... In this way genetic polymorphism is conserved.[2]. Evidence for balancing selection can be found in the number of alleles in a ... Polymorphisms maintained by this mechanism are balanced polymorphisms.[5]. A well-studied case is that of sickle cell anemia in ... Ford, E.B. (1940). "Polymorphism and taxonomy". In J. Huxley, ed. The new systematics. Oxford: Clarendon Press. pp. 493-513.. ...
Ismail, Somaia; Essawi, Mona (July 2012). "Genetic polymorphism studies in humans". Middle East Journal of Medical Genetics. 1 ... According to their complete research, they hypothesized that schizophrenia represented a genetic polymorphism with both ... This model primarily looks at the interaction between genetic heritage and cultural influences and how it impacts the onset of ... Huxley, J; Mayr, E; Osmond, H; Hoffer, A (1964). "Schizophrenia as a Genetic Morphism". Nature. 204 (4955): 220-1. doi:10.1038/ ...
Harley, C. D. G.; Pankey, M. S.; Wares, J. P.; Grosberg, R. K.; Wonham, M. J. (December 2006). "Color Polymorphism and Genetic ... To facilitate genetic transfer between isolated individuals, barnacles have extraordinarily long penises⁠. Barnacles probably ...
Ford E. B. (1965) Genetic polymorphism. p17-25. MIT Press 1965. Joron M, Papa R, Beltrán M, et al. (2006). "A conserved ... 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 ...
... single nucleotide polymorphisms), within a DNA sequence. Ancestry informative markers have a number of applications in genetic ... A single-nucleotide polymorphism is a modification of a single nucleotide base within a DNA sequence. There are an estimated 15 ... A set of aAIMs can be used to identify the ancestry of ancient populations and eventually quantify the genetic similarity to ... NGS enables the study of genetic markers by isolating specific gene sequences. One such method for sequence extraction is the ...
Haimila KE, Partanen JA, Holopainen PM (Mar 2002). "Genetic polymorphism of the human ICOS gene". Immunogenetics. 53 (12): 1028 ...
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 ... Groot, T V M; E Bruins; J A J Breeuwer (2003-02-28). "Molecular genetic evidence for parthenogenesis in the Burmese python, ... In the case of endomitosis after meiosis, the offspring is completely homozygous and has only half the mother's genetic ...
Board PG (1980). "Genetic polymorphism of human erythrocyte glyoxalase II". Am. J. Hum. Genet. 32 (5): 690-4. PMC 1686103. PMID ...
Genetic polymorphism of CYP2C19 in Maharashtrian population. Eur J Epidemiol 2007;22(12):907-915. Shinde VM, Dhalwal K, Mahadik ... Patwardhan B, Joshi K, Ghodke Y. Genetic basis to concept of prakriti [3]. Curr Sci 2006;90(7):896. Joshi K, Lad S, Kale M, ... Bhushan P, Kalpana J, Arvind C. Classification of human population based on HLA gene polymorphism and the concept of Prakriti ... Ghodke Y, Chopra A, Shintre P, Puranik A, Joshi K, Patwardhan B. Profiling single nucleotide polymorphisms (SNPs) across ...
Research into the genetic polymorphism indicates that PGP is likely determined by three alleles at a single autosomal locus, ... Barker RF, Hopkinson DA (October 1978). "Genetic polymorphism of human phosphoglycolate phosphatase (PGP)". Annals of Human ... 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 (March 1, 1975). "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 ...
Lokki, Juhani; Esko Suomalainen; Anssi Saura; Pekka Lankinen (1975-03-01). "Genetic Polymorphism and Evolution in ...
Ford, E.B. (1965). Genetic polymorphism. Proceedings of the Royal Society of London. Series B, Biological Sciences. 164. London ... PolymorphismEdit. Polymorphism refers to the occurrence of structurally and functionally more than two different types of ... Miller, D.J.; Ball, E.E. & Technau, U. (October 2005). "Cnidarians and ancestral genetic complexity in the animal kingdom". ...
Lokki, J., Suomalainen, E., Saura, A, & Lankinen, P. (Mars 1975). «Genetic Polymorphism and Evolution in Parthenogenetic ...
Gilbody S, Lewis S, Lightfoot T (2007). "Methylenetetrahydrofolate reductase (MTHFR) genetic polymorphisms and psychiatric ... Therefore, receiving sufficient amounts through the diet is necessary to avoid low fertility.[30] Also, polymorphisms in genes ... some genetic disorders that affect levels of folate; and certain medicines (such as phenytoin, sulfasalazine, or trimethoprim- ...
"Transsexual study reveals genetic link". *^ Bentz EK, Hefler LA, Kaufmann U, Huber JC, Kolbus A, Tempfer CB (July ... 2008). "A polymorphism of the CYP17 gene related to sex steroid metabolism is associated with female-to-male but not male-to- ... Twin studies suggest that there are likely genetic causes of transsexuality, although the precise genes involved are not fully ... or he had the right genetic predispositions or a normal sexuality. Harry Benjamin[29] considered the causes of transsexuality ...
基因組圖譜主要可以分成兩種,一種是遺傳圖譜(genetic map),另一種則是物理圖譜(physical map)。遺傳圖譜是利用基因的重組率來做分析,單位是分莫甘(centimorgan)。這種圖譜表現出來的是基因或特定DNA片段之間的相對位置,而不 ... 大多數對於人類遺傳變異的研究集中
Genetic variation in the key bile acid synthesis enzyme, CYP7A1, influenced the effectiveness of UDCA in colorectal adenoma ... "Risk modification of colorectal adenoma by CYP7A1 polymorphisms and the role of bile acid metabolism in carcinogenesis" ...
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.[25][28] While some of these ... increases the risk of developing diabetes by 1.5 times and is the greatest risk of the common genetic variants.[13] Most of the ...
"UGT1A1 Genetic Polymorphisms, Endogenous Estrogen Exposure, Soy Food Intake, and Endometrial Cancer Risk". Vanderbilt ... "Ovarian Cancer Risk and Polymorphisms Involved in Estrogen Catabolism". Program in Epidemiology, Division of Public Health ...
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,[36] as seen here with this ... Mallards are causing severe "genetic pollution" to South Africa's biodiversity by breeding with endemic ducks[113] even though ...
... can be a feature of rare genetic disorders such as Apert's syndrome.[15] 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.[40] ... "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[5]). In addition, the word " ... "zygosity" may also be used to describe the genetic similarity or dissimilarity of twins.[6] Identical twins are monozygotic, ...
Text is available under the Creative Commons Attribution/Share-Alike License and the GFDL; additional terms may apply. See Terms of Use for details ...
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.[6] C. crescentus is synonymous with Caulobacter vibrioides.[1] ... 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, ...
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.[7] 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.[8] 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 [4] 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.[41] ...
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 ...
"The genetic code" (PDF). Nobel Lecture (en inglés). 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,[18] 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 [21] and subsequently ... "Biological insights from 108 schizophrenia-associated genetic loci". Nature. 511 (7510): 421-427. doi:10.1038/nature13595 ...
Genetic engineering[edit]. TATA box modification[edit]. Evolutionary changes have pushed plants to adapt to the changing ... Gastric cancer is correlated with TATA box polymorphism.[39] The TATA box has a binding site for the transcription factor of ... Gilbert's syndrome is correlated with UTG1A1 TATA box polymorphism.[43] 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 ...
In 1908 George H. Shull discovered hybrid corn and the genetic principle behind it called heterosis, or "hybrid vigor."[22][23] ... 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.[30] Hershey ... Michael Wigler, genetic engineering of animal cells and molecular biologist, Member of the National Academy of Sciences and ...
These polymorphisms may be detected by molecular biology techniques at the DNA extracted from blood or saliva samples; genetic ... Genetic diagnostic[edit]. Genetic tests may be useful in assessing whether a person has primary lactose intolerance. Lactase ... This genetic defect is characterized by a complete lack of lactase (alactasia). About 40 cases have been reported worldwide, ... Genetic analysis shows lactase persistence has developed several times in different places independently in an example of ...
... genetic polymorphism ...
Genetic Analysis, Techniques and Applications. 7 (6): 160-71. doi:10.1016/0735-0651(90)90030-J. PMID 2076345.. ... definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences". DNA and Cell Biology. 9 (2): ...
Some research suggests that certain genetic polymorphisms may be related to the development of EMS.[4] The presence of ... This has been misused to argue that the genetic engineering itself was the primary cause of the contamination, a stance that ...
"BIONEWS - Germany passes genetic test laws". *^ "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.[45] Risk factors include a history of ... several gene polymorphisms have been found to correlate with anxiety: PLXNA2, SERT, CRH, COMT and BDNF.[56][57][58] Several of ... Sep 2011). "Evidence of association between Val66Met polymorphism at BDNF gene and anxiety disorders in a community sample of ...
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. ...
1993). „Genetic heterogeneity among blue-cone monochromats.". Am. J. Hum. Genet. 53 (5): 987-1000. PMC 1682301 . PMID 8213841. ... 1992). „Polymorphism in red photopigment underlies variation in colour matching.". Nature. 356 (6368): 431-3. PMID 1557123. doi ...
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/ ...
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 markers Method for analysing genome using microsatellite ...
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 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 ...
Chromosomal Inversion Polymorphism Leads to Extensive Genetic Structure Message Subject (Your Name) has forwarded a page to you ... Chromosomal Inversion Polymorphism Leads to Extensive Genetic Structure. A Multilocus Survey in Drosophila subobscura. Agustí ... Chromosomal Inversion Polymorphism Leads to Extensive Genetic Structure. A Multilocus Survey in Drosophila subobscura. Agustí ... Chromosomal Inversion Polymorphism Leads to Extensive Genetic Structure. A Multilocus Survey in Drosophila subobscura. Agustí ...
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 ...
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, ...
... 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. Official Title Correlation of Genetic Polymorphism and Livedo ... Correlation of Genetic Polymorphism and Livedo Vasculitis. The safety and scientific validity of this study is the ...
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 ... - explain Genetic polymorphism. Genetic polymorphism The term Genetic polymorphism as it applies to the ... Genetic engineering Genetic illness. Genetic marker. Genetic mosaic. Next 5 Terms:. Genetic predisposition. Genetic screening. ...
N-acetyltransferase 1 genetic polymorphism influences the risk of prostate cancer development.. Fukutome K1, Watanabe M, ... The potential involvement of N-acetyltransferase 1 (NAT1) genetic polymorphisms in prostate cancer (PCa) patients was analyzed ...
... 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 ...
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 ...
The negligible effect of ADA genetic polymorphism in females suggest a marginal influence of genetic factors in determining ... Gender-specific association of ADA genetic polymorphism with human longevity Biogerontology. 2010 Aug;11(4):457-62. doi: ...
血栓症と遺伝子多型 [in Japanese] Genetic Polymorphisms and Thrombotic Disorders [in Japanese] * * 村田 満 MURATA Mitsuru ... Genetic polymorphism of 5, 10-methylenetetrahydrofolate reductase (MTHFR) as a risk factor for coronary artery disease MORITA H ... Deletion polymorphism in the gene for angiotensin-converting enzyme is a potent risk factor for myocardial infarction CAMBIEN F ... Polymorphisms of factor V, factor VII, and fibrinogen genes-Relevance to severity of coronary artery disease WANG XL. ...
... 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. 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. ... 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 ...
... ... Single Nucleotide Polymorphisms (SNPs) are binary markers that can be identified in the DNA of the Y chromosome; they occur ... Deoxyribonucleic acid (DNA) is the molecule that encodes genetic information. Its structure resembles a twisted ladder known as ...
... We are all interested in our ... Genetic signatures of coancestry within surnames. You can download the final pre-publication version of the article here, and ... Most of us get our surnames from our father, and those of us who are males also get a section of our genetic material (DNA) ... Genetic drift (extinguishing lineages through random fluctuations in the number of sons within a surname group) *Number of ...
... gene val158met polymorphism and the SLC6A4 gene 5-HTTLPR polymorphism. We aimed to test if these polymorphisms moderate the ... Two common genetic polymorphisms have been linked to the neuroadaptive impact of Δ9-tetrahydrocannabinol (THC) exposure and to ... Both groups were genotyped and matched for genetic makeup, sex, age, education, and IQ. We used a computerized ... COMT val158met and 5-HTTLPR polymorphisms moderate the link between cannabis use and executive performance. Cannabis users ...
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. 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. 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: 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. 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 ...
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 ...
... the causative mechanisms of many diseases that have been the subject of genomewide association studies by carrying out genetic ...
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 ...
  • We further demonstrate bulked segregant analysis using the anchored SNPs as a method for high-throughput genetic mapping in zebrafish. (
  • 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. (
  • To overcome such limitations for STR loci, single nucleotide polymorphisms (SNPs) are considered as an alternative and supplementary markers 11 . (
  • InDels are the second abundant DNA polymorphisms after SNPs 17 . (
  • We further compiled a genetic-variation resource of 7,155 simple-sequence repeats (SSRs) and 6,500 single-nucleotide polymorphisms (SNPs). (
  • 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. (
  • 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. (
  • 3 Several types of genetic mutations or disturbances have been identified in patients with AD, including the presence of dysfunctional mutations, single nucleotide polymorphisms (SNPs), 5 mitochondrial mutations, and epigenetic changes. (
  • Selected single nucleotide polymorphisms (SNPs) were analysed as potential markers for asthma susceptibility and severity in the interleukin 4 ( IL4 ), interleukin 13 ( IL13 ), beta-2-adrenergic receptor ( ADRB2 ), a disintegrin and metalloprotease 33 ( ADAM33 ), gasdermin-like ( GSDML ) and the signal transducer and activator of transcription 6 ( STAT6 ) genes comparatively to a population reference set. (
  • 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. (
  • Enclosed are new, functionally relevant single nucleotide polymorphisms (SNPs) in regulatory sequences of the human CHK1 gene which encodes the checkpoint-kinase-1. (
  • Since 2007, developments in nanotechnology have enabled genome-wide association (GWA) studies, which typically study very large numbers (many hundreds to several thousands) of disease cases and controls at up to approximately 5 to 10 × 10 5 single-nucleotide polymorphisms (SNPs) at once. (
  • Five tag single nucleotide polymorphisms (SNPs) around or in LBX1 were genotyped in 180 patients with AIS and 182 controls. (
  • Multiple candidate gene-association studies of non-HLA single-nucleotide polymorphisms (SNPs) and outcomes after blood or marrow transplant (BMT) have been conducted. (
  • We selected and genotyped 4 cancer-associated single nucleotide polymorphisms (SNPs) in a cohort of 282 colorectal cancer patients. (
  • Single nucleotide polymorphisms, frequently called SNPs are the most common type of genetic variation among people. (
  • Single-nucleotide polymorphisms (SNPs) are widely used for whole-genome sequencing (WGS)-based subtyping of foodborne pathogens in outbreak and source tracking investigations. (
  • A total of 108 individuals from the Ecuadorian population from rural and urban places were analyzed for two CYP1A1 gene polymorphisms. (
  • 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. (
  • 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. (
  • We analyzed gene polymorphisms of NAD(P)H:quinone oxidoreductase (NQO1 ), glutathione S-tranferase ( GST)-M1 and -T1 , and CYP3A4 , the enzymes of which are capable of metabolizing anticancer drugs, in 58 patients with TRL/MDS and in 411 patients with de novo acute myeloid leukemia (AML). (
  • Comprehensive polymorphism data are essential for the systematic identification of sequence variants affecting phenotypes ( 1 ). (
  • 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. (
  • 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. (
  • 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. (
  • Various genetic variants have been identified as risk factors for DA in association studies. (
  • 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. (
  • Because complex traits also represent the cumulative effect of the action of relatively rare genetic variants, 8 the search for improved methods of genetic analysis continues. (
  • 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. (
  • Moderate risk alleles, such as variants in the CHEK2 gene, are also relatively rare and apparently explain very little of genetic risk. (
  • 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. (
  • These two labels were used to discriminate bi-allelic variants, while the size of the fragment allowed the identification of a particular polymorphism location. (
  • To this end, we suspected there could be non-additive interactions between genetic variants which may explain some of the allele reversal. (
  • Patterns of polymorphism are highly nonrandom among gene families, with genes mediating interaction with the biotic environment having exceptional polymorphism levels. (
  • 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. (
  • 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. (
  • 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. (
  • 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. (
  • 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. (
  • 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. (
  • Via several possible mechanisms, genetic polymorphisms of many genes, including ABCA1 , ApoE3 , CYP2D6 , CHAT , CHRNA7 , and ESR1 , appear to have strong correlations with the treatment response of patients with AD. (
  • 10 In using previous hypotheses regarding genes and proteins that are likely involved in the disease, as well as previous knowledge of functional polymorphisms in such regions, increased statistical efficiency may be achieved in seeking marker-on-trait associations for complex diseases, in part by minimizing multiple comparisons. (
  • In this prospective, multicentre cohort study, we investigated the association with treatment effectiveness and toxicity of 10 polymorphisms in nine candidate genes, covering the folate pathway ( MTHFR ), cell transport ( SLC19A1/ABCC2/ABCC4 ), intracellular metabolism ( FPGS/GGH ) and target enzymes ( TYMS/DHFR/ATIC ) of pemetrexed. (
  • 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. (
  • Regarding several cytotoxic agents, it was evidenced that genetic polymorphisms in genes encoding enzymes involved in their metabolism are associated with higher risk of toxicity. (
  • 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. (
  • 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. (
  • 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. (
  • 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. (
  • 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. (
  • 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. (
  • 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. (
  • Genetic polymorphism is the occurrence of a variant allele with a frequency of 1 per cent or greater in a population. (
  • 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. (
  • Thirty-five single nucleotide polymorphism (SNP) markers with a high minor allele frequency in East African landraces were used. (
  • 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. (
  • 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. (
  • 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. (
  • 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. (
  • 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. (
  • 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. (
  • For example, within the human race, there are many different polymorphisms of CYP 1A1, one of many cytochrome P450 enzymes of the liver. (
  • Although the enzymes are basically the same sequence and structure, polymorphisms in this enzyme can influence how humans metabolize drugs. (
  • 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. (
  • Genetic Polymorphisms in Metabolizing Enzymes and Susceptibi. (
  • To evaluate whether polymorphisms in metabolizing enzymes contributed to susceptibility of chromosomal damage induced by vinyl chloride monomer (VCM). (
  • Differences in the efficacy and toxicity of various antidiabetic drugs have been linked to polymorphisms in various drug metabolizing enzymes. (
  • 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. (
  • Several genetic polymorphisms in metabolic activation or detoxification enzymes have been associated with susceptibility to therapy-related leukemia and myelodysplastic leukemia (TRL/MDS). (
  • 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. (
  • The aim of the work is to search for loci of the genome of various types of foot-and-mouth disease virus (FMDV), characterized by the lowest variability, for use as genetic markers in the polymerase chain reaction (PCR) of virus identification. (
  • 2014) Single-Nucleotide Polymorphism Markers from De-Novo Assembly of the Pomegranate Transcriptome Reveal Germplasm Genetic Diversity. (
  • We used sequence-related amplified polymorphism (SRAP) markers and obtained 257 clearly defined bands amplified by 20 primers from 461 individuals. (
  • Chen, X. Population Structure and Genetic Relationships of Melia Taxa in China Assayed with Sequence-Related Amplified Polymorphism (SRAP) Markers. (
  • In previous work [7] we showed that both IL4-590 and IL4-RP2 are useful genetic markers to detect asthma predisposition in the Madeira population. (
  • 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. (
  • 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. (
  • X. fastidiosa , the causal agent of citrus variegated chlorosis, possesses genetic diversity, and the SNP markers were highly efficient for discriminating genetically close organisms. (
  • Mendelian randomization': can genetic epidemiology contribute to understanding environmental determinants of disease? (
  • 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 ). (
  • We again show a high degree of coancestry that increases as surname frequency decreases, the dominant effect of genetic drift in patterning variation within surnames, and a remarkable difference between Y-diversity within British and Irish surnames. (
  • For polymorphism discovery, we selected accessions with maximal genetic diversity ( 6 , 7 ). (
  • 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. (
  • 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. (
  • This study aimed at investigating the genetic diversity of a panel of Candida africana strains recovered from vaginal samples in different countries. (
  • 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. (
  • Here, we investigated the genetic diversity and population structure of 31 Melia populations across the natural distribution range of the genus in China. (
  • 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. (
  • Background: It is well-established that the differences among ethnic groups in drug response mainly lie in the genetic diversity of pharmacogenes. (
  • 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. (
  • Here, we report results wherein amplified fragment length polymorphism was used to determine genetic diversity of stable fly samples consisting of 11-40 individuals from 12 locations representing the United States, Canada, and Panama. (
  • In this study, genetic diversity and natural selection of PfCSP in Myanmar as well as global P. falciparum were comprehensively analysed. (
  • 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. (
  • Myanmar and global PfCSP displayed genetic diversity. (
  • The genetic diversity of 45 almond cultivars from Iran, Europe, and America, were studied assaying 19 primer combinations. (
  • Our results showed the great genetic diversity of the almond cultivars and their interest for almond breeding. (
  • 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. (
  • 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. (
  • 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. (
  • 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. (
  • 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. (
  • 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. (
  • Genotype distribution was in Hardy-Weinberg equilibrium for all three ABCB1 polymorphisms in the eight Mexican populations analyzed. (
  • Genetic polymorphism is a term used somewhat differently by geneticists and molecular biologists to describe certain mutations in the genotype, such as single nucleotide polymorphisms that may not always correspond to a phenotype, but always corresponds to a branch in the genetic tree. (
  • It was Sheppard who found that the polymorphism is maintained by selective mating: each genotype preferentially mates with other morphs. (
  • 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. (
  • 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. (
  • For the CYP2C9*2 (rs1799853) polymorphism, the frequencies were 3.1%, 12.5% and 84.44% for CC, AA and CA genotypes. (
  • 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. (
  • 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. (
  • A method and a package for identifying single nucleotide polymorphisms in complement receptor is useful in identifying individual susceptibility to a disease. (
  • 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. (
  • 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. (
  • 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. (
  • This study is aimed to analyze the association between antihypertensive effects of nifedipine as well as barnidipine and single nucleotide polymorphisms of CYP3A4, CYP3A5 and calcium channels. (
  • Indeed, these genetic polymorphisms, either in the form of single nucleotide polymorphisms or direct changes to one or more amino acids, have been shown to cause differences in the therapeutic response. (
  • Alignment of TRAP-C2 nucleotide positions that show polymorphism among Cryptosporidium parvum isolates from human and nonhuman sources. (
  • Genetic single-nucleotide polymorphisms of this enzyme generate proteins with reduced enzymatic activity. (
  • 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. (
  • The effect of genetic polymorphisms in the vinyl chloride metabolic pathway on mutagenic risk. (
  • We also studied the association between genetic polymorphisms in CYP2D6, OPRM1 and ABCB1 and pharmacokinetic and pharmacodynamic properties of TRA. (
  • 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. (
  • At the chromosomal scale, regional variation in polymorphism was readily apparent. (
  • 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 . (
  • 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 ). (
  • The resulting polymorphism data set captures much of the common sequence variation in the worldwide A. thaliana population. (
  • Purpose: There is a significant interindividual variation in the response to tramadol (TRA), which can partly be explained by genetic variation. (
  • There was great interindividual variation in DRS, but no associations could be found between DRS and investigated polymorphisms. (
  • Instead, polymorphism refers to forms that are discontinuous (have discrete variation), bimodal (having or involving two modes), or polymodal (multiple modes). (
  • A polymorphism is a DNA sequence variation that is common in the population. (
  • 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. (
  • Then, we investigated the impact of genetic variation in MR and comorbidity with hypertension on the prognosis in ADT. (
  • 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). (
  • Genetic variation in MR (rs5522) and comorbidity with hypertension were significantly and potentially associated with prognosis when treated with ADT, respectively. (
  • With recognition that the GWA approach may be unable to uncover much of the source of genetic variation for many clearly heritable traits, 7 especially rare genetic variation, 8 the candidate gene approach is increasingly appreciated for complex diseases. (
  • It has a high degree of genetic variation. (
  • Although differences among Amerindians are probably due to genetic drift effects, for Mestizos this could imply variation in admixture composition. (
  • it is related to biodiversity, genetic variation, and adaptation. (
  • Polymorphism deals with forms in which the variation is discrete (discontinuous) or strongly bimodal or polymodal. (
  • The significance of geographical variation is in that it may lead to allopatric speciation, whereas true polymorphism takes place in panmictic populations. (
  • Polymorphism occurs both at specific level with heritable variation in the overall morphological design of individuals as well as in certain specific morphological or physiological traits within a species. (
  • 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. (
  • 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. (
  • 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. (
  • Genetic factors such as LBX1 polymorphisms have been recently proved to be associated with AIS in some populations. (
  • 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). (
  • In Lepidoptera, polymorphism can be seen not only between individuals in a population, but also between the sexes as sexual dimorphism, between geographically separated populations in geographical polymorphism and also between generations flying at different seasons of the year (seasonal polymorphism). (
  • 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. (
  • Using polymerase chain reaction-based methods, we assessed the frequency of the Msp I polymorphism in the 3′-end of CYP1A1 and another mutation in exon 7 of the gene (Ile-Val polymorphism) among 43 patients with in situ adenocarcinoma of the large bowel and 129 population controls. (
  • 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. (
  • 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. (
  • There was no difference in the frequency of polymorphisms at loci 27 (Gln27 or Glu27) and 164 (Thr164 or Ile164) between the two groups. (
  • We investigated the possible influence of adenylate kinase genetic variability on the effect of maternal smoking on intrauterine selection and development. (
  • Two common genetic polymorphisms have been linked to the neuroadaptive impact of Δ9-tetrahydrocannabinol (THC) exposure and to executive functions in animals: the catechol-O-methyltransferase ( COMT ) gene val158met polymorphism and the SLC6A4 gene 5-HTTLPR polymorphism. (
  • Common genetic polymorphisms within LOXL1 show the strongest evidence of association to date. (
  • Polymerase chain reaction and virus genome sequencing methods are used for genetic indication of FMD [ 14 , 15 ]. (
  • Our conclusion is that the AFLP technique will be useful for identification of individual isolates within complex genera such as Colletotrichum because of its ability to generate large numbers of polymorphisms and the consistency of polymerase chain reaction amplification. (
  • 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. (
  • Characterization of the GSTT1 polymorphism will thus enable a more accurate assessment of human health risk from synthetic halomethanes and other industrial chemicals. (
  • The structural basis of the barrier to genetic recombination on the molecular level is the difference in their DNA sequences ( 1 , 2 ). (
  • In this study we aimed to be able to put these studies on a sounder scientific basis by using modern molecular genetic methods to test some of the assumptions which underlie them. (
  • 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. (
  • 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. (
  • 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. (
  • 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 ). (
  • In addition to the obvious clinical picture, the detection of FMDV actively uses serological and molecular genetic diagnostic methods. (
  • 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. (
  • Amplified fragment length polymorphism (AFLP) analysis is a rapid and efficient method for producing DNA fingerprints and molecular characterization. (
  • This change creates an Eco57 I restriction site, making detection of this polymorphism in large epidemiological studies cost efficient. (
  • Amplified restriction fragment length polymorphism (AFLP) was used to assess the levels of genomic variations among species and isolates of the genus Colletotrichum . (
  • The investigators investigate the prevalence of genetic polymorphism affecting efavirenz metabolism and the corresponding pharmacokinetics of different genotypes. (
  • 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. (
  • 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. (
  • 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. (
  • The contribution of polymorphisms at specific loci are now documented for hypertensive ESRD, including the nonmuscle myosin variant, MYH9 , 4 and the catecholamine storage vesicle protein chromogranin A, CHGA . (
  • To delineate the underlying genetic basis, we analyzed chromosomal segments containing loci contributing to each SLE feature, using NZB,NZW,(NZB x NZW) F1, (NZW x BXSB) F1, their backcross progeny, congenic strains, and transgenic mice. (
  • 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). (
  • A similar association was suggested for the exon 7 mutation homozygosity in Japanese, as the two polymorphisms are in genetic disequilibrium. (
  • Despite indirect evidence of their adaptive significance, little is known of the phenotypic targets of selection or the underlying genetic mechanisms. (
  • We report the characterization of the genetic polymorphism causing the phenotypic difference. (
  • Amplified fragment length polymorphism (AFLP) was evaluated as a method for genotypic characterization and subtyping within the bacterial species Actinobacillus pleuropneumoniae . (
  • Additionally, the polymorphisms existed in the ancestor genomes before the occurrence of adaptive radiations (6) was shown to be contributed to diversification and parallel evolution (7) . (
  • In biology, polymorphism is the occurrence of two or more clearly different morphs or forms, also referred to as alternative phenotypes, in the population of a species. (
  • The term polymorphism also refers to the occurrence of structurally and functionally more than two different types of individuals, called zooids, within the same organism. (
  • However, as length polymorphisms, InDels can be genotyped using capillary electrophoresis which is available in common forensic laboratories. (
  • 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. (
  • Mutations by themselves do not classify as polymorphisms. (
  • Some genetic mutations have been identified as risk factors and are believed to be involved in the pathological development of AD. (
  • We detected 62 genetic polymorphisms of CYP2D6, 16 of which were novel SNP with three novel non-synonymous mutations detected for the first time. (
  • Rare variations are not classified as polymorphisms, and mutations by themselves do not constitute polymorphisms. (
  • Rsal polymorphism of CYP2E1, Ser/Cys polymorphism of OGG1, Ile/Val polymorphism of CYP1A1, IL-1b polymorphism were evaluated in lung and gastric cancer case-controls and chronic gastritis with Helicobacter pylori infection. (
  • 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. (
  • The investigators hypothesis is that individuals with the genetic variant associated to higher levels of NOS3 will have more benefits from sildenafil treatment. (
  • A recent genome-wide association study indicated a suggestive association of LRRK2 genetic variant rs1873613 with leprosy in Chinese population. (
  • 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. (
  • The use of the words "morph" or "polymorphism" for what is a visibly different geographical race or variant is common, but incorrect. (
  • Genetic variations in individuals may cause differences in the response to cholinesterase inhibitor drugs used in the treatment of Alzheimer's disease (AD). (
  • This study aimed to investigate genetic polymorphisms of CYP2D6 among healthy Uygur individuals. (
  • Genetic polymorphisms of CYP2D6 could greatly affect CYP2D6 activity and lead to differences among individuals in drug efficacy or side effects. (
  • 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. (
  • At present, there is no comprehensive system for the study of CYP2D6 polymorphisms in the Uygur population of China. (
  • 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. (
  • Although various allelic forms of different CYPs have been reported, functional polymorphism has only been established for CYP2A6, CYP2C9, CYP2C19 and CYP2D61. (
  • An Analysis of the Impact of Functional Programming Techniques on Genetic Programming , Phd Thesis, University College London, 1999. (
  • To explore the prevalence and functional importance of LBX1 polymorphisms in patients with AIS within the northern Chinese Han population. (
  • 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. (
  • 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. (
  • Proton pump inhibitors (PPIs) are extensively metabolized in the liver by CYP2C19, that demonstrates genetic polymorphism with 21 mutant alleles. (
  • Furthermore, AFLP typing was able to allocate serologically nontypeable isolates to appropriate genetic groups within the species. (
  • However, the correlation between genetic similarity clustering as based on AFLP and clustering for agronomic traits was low. (
  • Mitochondrial DNA polymorphisms at and around nucleotides 4917, 11,812, and 14,233 were determined using PCR amplification and direct sequencing of mitochondrial DNA. (
  • Polymorphism is appearance of forms or "morphs" differing in colour and number of attributes within a single species. (
  • However, no studies to date have explored whether genetic variations in the monoamine systems that support frontostriatal networks and executive control relate to individual differences in cannabis-related executive deficits. (
  • 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. (
  • These results suggest that genetic variations in the MMP2 might be potential predictors of distant metastasis-free survival after curative surgery. (
  • Proceedings of the Conference on Genetic Polymorphisms and Geographic Variations in Disease. (
  • The N-terminal and C-terminal non-repeat regions of Myanmar PfCSP showed limited genetic variations. (
  • We conducted a population-based case-control study to investigate whether CYP1A1 polymorphisms were related to colorectal cancer risk. (
  • In polyphenism, an individual's genetic makeup allows for different morphs, and the switch mechanism that determines which morph is shown is environmental. (
  • To qualify as a polymorphism, some kind of balance must exist between morphs underpinned by inheritance. (
  • Genetic polymorphism occurs when the morphs are a result of genetic determination only. (
  • Geographical polymorphism is where geographical isolation causes a divergence of a species into different morphs. (
  • On the basis of genetic polymorphism a population may be divided into two groups namely extensive metabolizers (EMs) demonstrating normal metabolism of the drugs and poor metabolizers (PMs) demonstrating impaired metabolism of drugs due to the deficiency of CYPs. (
  • The metabolism of the anticonvulsant mephenytoin is subject to a genetic polymorphism. (
  • 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. (
  • Alonso A, Martfn P, Albarran C, Sancho M (1993) Amplified fragment length polymorphism analysis of the VNTR locus D1S80 in central Spain. (
  • 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. (
  • Nosikov W, Chistyakov DA, Gavrilov DK, Ovchinnnikov IV, Chelnokova MV (1992) Analysis of PCR-based VNTR polymorphism within an East Slavonic population. (
  • 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. (
  • Amplified fragment length polymorphism fingerprint analysis yielded greater genotypic heterogeneity among the C. africana strains. (
  • In the comparative genomic analysis carried out this time, it was clarified that there exist many ancestral polymorphisms in cichlid genomes. (
  • 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). (
  • 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. (
  • Genetic analysis reveal significant and consistent pairwise interactions between common non-coding LOXL1 polymorphisms. (
  • Population structure and F-statistics (Fst) analysis show that the genetic background of the Miao is relatively close to that of Chinese in metropolitan Denver, CO, USA (CHD). (
  • Data is available from 1939 to the present day, got by the usual field method of capture-mark-release-recapture and by genetic analysis from breeding in captivity. (
  • Genomic DNA from cases and controls was analyzed for genetic polymorphism in codon 432 ( Val→Leu ) of the CYP1B1 gene using a PCR-RFLP-based assay. (
  • 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). (
  • Amplified Fragment Length Polymorphism Used to Investigate Genetic Var" by K. M. Kneeland, S. R. Skoda et al. (
  • 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. (
  • Most of the genetic factors identified so far involve the nuclear genome. (
  • 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. (
  • Conclusion: Cognition of adults was associated with MTHFR, SLC19A1 gene polymorphism and serum Hcy levels. (
  • This study clearly establishes a combined effect of MTHFR gene polymorphism and serum B vitamins levels on cognition in Chinese adults. (
  • In summary, our findings indicate that genetic polymorphisms should be considered in the management of AD to achieve both effective and efficient treatment outcomes in terms of cost and prognosis. (
  • However, genetic progress may be further enhanced if we could gain insight into the black box of quantitative traits. (
  • By contrast, the candidate gene approach may be a practical and logical alternative to GWA in complex genetic traits. (
  • Kidney diseases, both chronic and acute, present examples of heterogeneous disease processes resulting from different etiologies and pathologies influenced by one's own genetic background, eventuating in particular disease traits or predispositions for certain ailments, with modification by environmental conditions, such as medications, diet, stress, and comorbid illnesses. (
  • Given the complexity of the genetic polymorphism associated with disease phenotype, as a limitation from the studies, authors agree that the sample size is not large enough, yet the papers found obtained a GRADE B level of evidence after adjustment for confounding factors. (
  • Thus the Gly16 polymorphism of the beta 2AR, which imparts an enhanced downregulation of receptor number, is overrepresented in nocturnal asthma and appears to be an important genetic factor in the expression of this asthmatic phenotype. (
  • A species may be defined as a population of organisms capable of sharing their gene pool through mating and genetic recombination. (
  • The inability to undergo genetic recombination with each other isolates related species independently of geographic isolation. (
  • ii ) Given that MMR deficiency and strong SOS induction disrupt the genetic barrier ( 2 ) and thus "reverse" the process of species separation, is the manipulation of these two systems in the opposite direction sufficient to speed up the process and create new genetic barriers, mimicking a speciation event? (
  • Moreover, it sheds new light on the genetic interrelations between pomegranate species worldwide and more accurately defines their genetic nature. (
  • Although the two putative species are morphologically distinguishable, genetic evidence supporting their taxonomic separation is lacking. (
  • Certain closely related species, however, may not be distinguished by this method due to insufficient interspecies polymorphisms within the 16S rRNA gene sequences ( 2 , 5 , 14 ). (
  • 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 ). (
  • According to the theory of evolution, polymorphism results from evolutionary processes, as does any aspect of a species. (
  • This species, and others in its genus, have been extensively studied for understanding the genetic basis for polymorphism and Batesian mimicry. (
  • The influence of genetic polymorphisms in ABCB1 and OPRM1 requires further study. (
  • 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. (
  • These results are an important contribution to understanding the interactions between genetic and environmental factors that may modify the risk of asbestosis. (
  • The pathogenesis of gastric cancer (GC) involves environmental and genetic factors. (
  • Asthma is a complex disease influenced by multiple genetic and environmental factors. (
  • While Madeira has the highest prevalence of asthma in Portugal (14.6%), the effect of both genetic and environmental factors in this population has never been assessed. (
  • It is described as a complex disease arising from the contribution of multiple genetic and environmental factors [2,3], affecting more than 300 million people worldwide, with increased prevalence in developed societies [4]. (
  • Age-related macular degeneration (AMD) is a multifactorial disease involving genetic and environmental factors. (
  • AMD is a multifactorial disease involving genetic and environmental risk factors. (
  • Our data also indicate that identification of the group of susceptible subjects should be based on both environmental exposure and gene polymorphism. (
  • Seasonal polyphenism in Eurema hecabe Environmental polymorphism, where genetic heritability plays no role, is often termed as polyphenism. (
  • The tests of neutrality suggested population expansion, and no genetic differentiation was found between locations. (
  • 24, 1998 entitled "Genetic Polymorphism in the Receptor for IgA," and U.S. provisional application Ser. (
  • No. 60/106,643 filed Nov. 2, 1998 entitled "Genetic Polymorphism in a Complement Receptor. (
  • Analyses of structure, PCA, interpopulation differentiations and phylogenetic tree revealed that the Xibe group had close genetic relationships with South Korean, Beijing Han and Guangdong Han groups. (
  • Regarding toxicity, this ATIC polymorphism was significantly associated with severe laboratory (p=0.014) and clinical (p=0.016) chemotherapy-related adverse events, severe neutropenia (p=0.007) and all-grade diarrhoea (p=0.034) in multivariable analyses. (
  • Genetic analyses were performed by RvS and NvD and pharmacogenetic analyses by SV and SK. (
  • The effect of CYP polymorphisms on the clinical outcomes in patients treated with prasugrel remains unknown. (
  • We conducted a systematic review of the studies published from 2006 to 2018 that assessed the relationship between genetic polymorphisms and the pharmacotherapeutic outcomes of patients with AD. (
  • Genetic susceptibility to tobacco smoke might modify the effect of smoking on pregnancy outcomes. (
  • This study investigates whether CAT -262 C>T genetic polymorphism influences the risk of asbestosis in workers occupationally exposed to asbestos. (
  • N-acetyltransferase 1 genetic polymorphism influences the risk of prostate cancer development. (
  • In Proceedings of the Sixth International Conference on Genetic Algorithms , pages 271-278, 1995. (