Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Gene Frequency: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Polymorphism, Genetic: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Genetics, Population: The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.Haplotypes: The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.Genetic Variation: Genotypic differences observed among individuals in a population.Linkage Disequilibrium: Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone.Models, Genetic: Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.Case-Control Studies: Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Asian Continental Ancestry Group: Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.Polymorphism, Restriction Fragment Length: Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Selection, Genetic: Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Microsatellite Repeats: A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).Homozygote: An individual in which both alleles at a given locus are identical.European Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Europe.Genetic Association Studies: The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Genome-Wide Association Study: An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Genetic Drift: The fluctuation of the ALLELE FREQUENCY from one generation to the next.Genome, Human: The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.African Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Africa.Genetic Loci: Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.Genotyping Techniques: Methods used to determine individuals' specific ALLELES or SNPS (single nucleotide polymorphisms).DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.DNA: A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).China: A country spanning from central Asia to the Pacific Ocean.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Computer Simulation: Computer-based representation of physical systems and phenomena such as chemical processes.Ethnic Groups: A group of people with a common cultural heritage that sets them apart from others in a variety of social relationships.Risk Factors: An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.Population: The total number of individuals inhabiting a particular region or area.JapanHapMap Project: A coordinated international effort to identify and catalog patterns of linked variations (HAPLOTYPES) found in the human genome across the entire human population.Gene Pool: The total genetic information possessed by the reproductive members of a POPULATION of sexually reproducing organisms.DNA Primers: Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.Likelihood Functions: Functions constructed from a statistical model and a set of observed data which give the probability of that data for various values of the unknown model parameters. Those parameter values that maximize the probability are the maximum likelihood estimates of the parameters.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.HLA-DRB1 Chains: A subtype of HLA-DRB beta chains that includes over one hundred allele variants. The HLA-DRB1 subtype is associated with several of the HLA-DR SEROLOGICAL SUBTYPES.Quantitative Trait, Heritable: A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)Paternity: Establishing the father relationship of a man and a child.Genetic Testing: Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.Epistasis, Genetic: A form of gene interaction whereby the expression of one gene interferes with or masks the expression of a different gene or genes. Genes whose expression interferes with or masks the effects of other genes are said to be epistatic to the effected genes. Genes whose expression is affected (blocked or masked) are hypostatic to the interfering genes.Inheritance Patterns: The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.Population Groups: Individuals classified according to their sex, racial origin, religion, common place of living, financial or social status, or some other cultural or behavioral attribute. (UMLS, 2003)Algorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.Crosses, Genetic: Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.HLA-DQ Antigens: A group of the D-related HLA antigens found to differ from the DR antigens in genetic locus and therefore inheritance. These antigens are polymorphic glycoproteins comprising alpha and beta chains and are found on lymphoid and other cells, often associated with certain diseases.Cohort Studies: Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.Models, Statistical: Statistical formulations or analyses which, when applied to data and found to fit the data, are then used to verify the assumptions and parameters used in the analysis. Examples of statistical models are the linear model, binomial model, polynomial model, two-parameter model, etc.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Sample Size: The number of units (persons, animals, patients, specified circumstances, etc.) in a population to be studied. The sample size should be big enough to have a high likelihood of detecting a true difference between two groups. (From Wassertheil-Smoller, Biostatistics and Epidemiology, 1990, p95)Heterozygote Detection: Identification of genetic carriers for a given trait.INDEL Mutation: A mutation named with the blend of insertion and deletion. It refers to a length difference between two ALLELES where it is unknowable if the difference was originally caused by a SEQUENCE INSERTION or by a SEQUENCE DELETION. If the number of nucleotides in the insertion/deletion is not divisible by three, and it occurs in a protein coding region, it is also a FRAMESHIFT MUTATION.Promoter Regions, Genetic: DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.Introns: Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.High-Throughput Nucleotide Sequencing: Techniques of nucleotide sequence analysis that increase the range, complexity, sensitivity, and accuracy of results by greatly increasing the scale of operations and thus the number of nucleotides, and the number of copies of each nucleotide sequenced. The sequencing may be done by analysis of the synthesis or ligation products, hybridization to preexisting sequences, etc.Recombination, Genetic: Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.Inbreeding: The mating of plants or non-human animals which are closely related genetically.HLA-DQ alpha-Chains: Transmembrane proteins that form the alpha subunits of the HLA-DQ antigens.Forensic Genetics: The application of genetic analyses and MOLECULAR DIAGNOSTIC TECHNIQUES to legal matters and crime analysis.Geography: The science dealing with the earth and its life, especially the description of land, sea, and air and the distribution of plant and animal life, including humanity and human industries with reference to the mutual relations of these elements. (From Webster, 3d ed)Odds Ratio: The ratio of two odds. The exposure-odds ratio for case control data is the ratio of the odds in favor of exposure among cases to the odds in favor of exposure among noncases. The disease-odds ratio for a cohort or cross section is the ratio of the odds in favor of disease among the exposed to the odds in favor of disease among the unexposed. The prevalence-odds ratio refers to an odds ratio derived cross-sectionally from studies of prevalent cases.Biological Evolution: The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.Exome: That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.Korea: Former kingdom, located on Korea Peninsula between Sea of Japan and Yellow Sea on east coast of Asia. In 1948, the kingdom ceased and two independent countries were formed, divided by the 38th parallel.Breeding: The production of offspring by selective mating or HYBRIDIZATION, GENETIC in animals or plants.Methylenetetrahydrofolate Reductase (NADPH2): A flavoprotein amine oxidoreductase that catalyzes the reversible conversion of 5-methyltetrahydrofolate to 5,10-methylenetetrahydrofolate. This enzyme was formerly classified as EC 1.1.1.171.Genetic Diseases, Inborn: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)HLA-DQ beta-Chains: Transmembrane proteins that form the beta subunits of the HLA-DQ antigens.Software: Sequential operating programs and data which instruct the functioning of a digital computer.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Apolipoproteins E: A class of protein components which can be found in several lipoproteins including HIGH-DENSITY LIPOPROTEINS; VERY-LOW-DENSITY LIPOPROTEINS; and CHYLOMICRONS. Synthesized in most organs, Apo E is important in the global transport of lipids and cholesterol throughout the body. Apo E is also a ligand for LDL receptors (RECEPTORS, LDL) that mediates the binding, internalization, and catabolism of lipoprotein particles in cells. There are several allelic isoforms (such as E2, E3, and E4). Deficiency or defects in Apo E are causes of HYPERLIPOPROTEINEMIA TYPE III.Apolipoprotein E4: A major and the second most common isoform of apolipoprotein E. In humans, Apo E4 differs from APOLIPOPROTEIN E3 at only one residue 112 (cysteine is replaced by arginine), and exhibits a lower resistance to denaturation and greater propensity to form folded intermediates. Apo E4 is a risk factor for ALZHEIMER DISEASE and CARDIOVASCULAR DISEASES.Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.Indians, South American: Individual members of South American ethnic groups with historic ancestral origins in Asia.Aryl Hydrocarbon Hydroxylases: A large group of cytochrome P-450 (heme-thiolate) monooxygenases that complex with NAD(P)H-FLAVIN OXIDOREDUCTASE in numerous mixed-function oxidations of aromatic compounds. They catalyze hydroxylation of a broad spectrum of substrates and are important in the metabolism of steroids, drugs, and toxins such as PHENOBARBITAL, carcinogens, and insecticides.Esocidae: A family of freshwater fish of the order ESOCIFORMES, comprising the pikes, inhabiting the waters of the Northern Hemisphere. There is one genus, Esox, with five species: northern pike, grass pickerel, chain pickerel, muskellunge, and Amur pike.Minisatellite Repeats: Tandem arrays of moderately repetitive, short (10-60 bases) DNA sequences which are found dispersed throughout the GENOME, at the ends of chromosomes (TELOMERES), and clustered near telomeres. Their degree of repetition is two to several hundred at each locus. Loci number in the thousands but each locus shows a distinctive repeat unit.Polymorphism, Single-Stranded Conformational: Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.EuropeTime Factors: Elements of limited time intervals, contributing to particular results or situations.Age of Onset: The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.Peptidyl-Dipeptidase A: A peptidyl-dipeptidase that catalyzes the release of a C-terminal dipeptide, -Xaa-*-Xbb-Xcc, when neither Xaa nor Xbb is Pro. It is a Cl(-)-dependent, zinc glycoprotein that is generally membrane-bound and active at neutral pH. It may also have endopeptidase activity on some substrates. (From Enzyme Nomenclature, 1992) EC 3.4.15.1.Genomics: The systematic study of the complete DNA sequences (GENOME) of organisms.Population Density: Number of individuals in a population relative to space.Founder Effect: A phenomenon that is observed when a small subgroup of a larger POPULATION establishes itself as a separate and isolated entity. The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive.African Americans: Persons living in the United States having origins in any of the black groups of Africa.HLA-DR Antigens: A subclass of HLA-D antigens that consist of alpha and beta chains. The inheritance of HLA-DR antigens differs from that of the HLA-DQ ANTIGENS and HLA-DP ANTIGENS.Disease Susceptibility: A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Dinucleotide Repeats: The most common of the microsatellite tandem repeats (MICROSATELLITE REPEATS) dispersed in the euchromatic arms of chromosomes. They consist of two nucleotides repeated in tandem; guanine and thymine, (GT)n, is the most frequently seen.Reproducibility of Results: The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results.Chi-Square Distribution: A distribution in which a variable is distributed like the sum of the squares of any given independent random variable, each of which has a normal distribution with mean of zero and variance of one. The chi-square test is a statistical test based on comparison of a test statistic to a chi-square distribution. The oldest of these tests are used to detect whether two or more population distributions differ from one another.HLA-B Antigens: Class I human histocompatibility (HLA) surface antigens encoded by more than 30 detectable alleles on locus B of the HLA complex, the most polymorphic of all the HLA specificities. Several of these antigens (e.g., HLA-B27, -B7, -B8) are strongly associated with predisposition to rheumatoid and other autoimmune disorders. Like other class I HLA determinants, they are involved in the cellular immune reactivity of cytolytic T lymphocytes.Nuclear Family: A family composed of spouses and their children.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Databases, Genetic: Databases devoted to knowledge about specific genes and gene products.Genealogy and HeraldryPharmacogenetics: A branch of genetics which deals with the genetic variability in individual responses to drugs and drug metabolism (BIOTRANSFORMATION).Codon: A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE).Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Bayes Theorem: A theorem in probability theory named for Thomas Bayes (1702-1761). In epidemiology, it is used to obtain the probability of disease in a group of people with some characteristic on the basis of the overall rate of that disease and of the likelihood of that characteristic in healthy and diseased individuals. The most familiar application is in clinical decision analysis where it is used for estimating the probability of a particular diagnosis given the appearance of some symptoms or test result.Tandem Repeat Sequences: Copies of DNA sequences which lie adjacent to each other in the same orientation (direct tandem repeats) or in the opposite direction to each other (INVERTED TANDEM REPEATS).Mutation Rate: The number of mutations that occur in a specific sequence, GENE, or GENOME over a specified period of time such as years, CELL DIVISIONS, or generations.Jews: An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.Probability: The study of chance processes or the relative frequency characterizing a chance process.Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.Gene Flow: The change in gene frequency in a population due to migration of gametes or individuals (ANIMAL MIGRATION) across population barriers. In contrast, in GENETIC DRIFT the cause of gene frequency changes are not a result of population or gamete movement.Genetic Techniques: Chromosomal, biochemical, intracellular, and other methods used in the study of genetics.Amino Acid Substitution: The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.Continental Population Groups: Groups of individuals whose putative ancestry is from native continental populations based on similarities in physical appearance.Indians, Central American: Individual members of Central American ethnic groups with ancient historic ancestral origins in Asia. Mexican Indians are not included.Databases, Nucleic Acid: Databases containing information about NUCLEIC ACIDS such as BASE SEQUENCE; SNPS; NUCLEIC ACID CONFORMATION; and other properties. Information about the DNA fragments kept in a GENE LIBRARY or GENOMIC LIBRARY is often maintained in DNA databases.Species Specificity: The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.TurkeyMultifactorial Inheritance: A phenotypic outcome (physical characteristic or disease predisposition) that is determined by more than one gene. Polygenic refers to those determined by many genes, while oligogenic refers to those determined by a few genes.Cytochrome P-450 CYP2D6: A cytochrome P450 enzyme that catalyzes the hydroxylation of many drugs and environmental chemicals, such as DEBRISOQUINE; ADRENERGIC RECEPTOR ANTAGONISTS; and TRICYCLIC ANTIDEPRESSANTS. This enzyme is deficient in up to 10 percent of the Caucasian population.Reference Values: The range or frequency distribution of a measurement in a population (of organisms, organs or things) that has not been selected for the presence of disease or abnormality.Diabetes Mellitus, Type 2: A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY.IndiaInsecticide Resistance: The development by insects of resistance to insecticides.Penetrance: The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)Apolipoprotein E2: One of three major isoforms of apolipoprotein E. In humans, Apo E2 differs from APOLIPOPROTEIN E3 at one residue 158 where arginine is replaced by cysteine (R158--C). In contrast to Apo E3, Apo E2 displays extremely low binding affinity for LDL receptors (RECEPTORS, LDL) which mediate the internalization and catabolism of lipoprotein particles in liver cells. ApoE2 allelic homozygosity is associated with HYPERLIPOPROTEINEMIA TYPE III.Monte Carlo Method: In statistics, a technique for numerically approximating the solution of a mathematical problem by studying the distribution of some random variable, often generated by a computer. The name alludes to the randomness characteristic of the games of chance played at the gambling casinos in Monte Carlo. (From Random House Unabridged Dictionary, 2d ed, 1993)Genetic Heterogeneity: The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)Genetics, Medical: A subdiscipline of human genetics which entails the reliable prediction of certain human disorders as a function of the lineage and/or genetic makeup of an individual or of any two parents or potential parents.Analysis of Variance: A statistical technique that isolates and assesses the contributions of categorical independent variables to variation in the mean of a continuous dependent variable.Haploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.Genes: A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.HLA Antigens: Antigens determined by leukocyte loci found on chromosome 6, the major histocompatibility loci in humans. They are polypeptides or glycoproteins found on most nucleated cells and platelets, determine tissue types for transplantation, and are associated with certain diseases.Genome: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA.Deoxyribonucleases, Type II Site-Specific: Enzyme systems containing a single subunit and requiring only magnesium for endonucleolytic activity. The corresponding modification methylases are separate enzymes. The systems recognize specific short DNA sequences and cleave either within, or at a short specific distance from, the recognition sequence to give specific double-stranded fragments with terminal 5'-phosphates. Enzymes from different microorganisms with the same specificity are called isoschizomers. EC 3.1.21.4.HLA-A Antigens: Polymorphic class I human histocompatibility (HLA) surface antigens present on almost all nucleated cells. At least 20 antigens have been identified which are encoded by the A locus of multiple alleles on chromosome 6. They serve as targets for T-cell cytolytic responses and are involved with acceptance or rejection of tissue/organ grafts.Lod Score: The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."Repetitive Sequences, Nucleic Acid: Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).Czech Republic: Created 1 January 1993 as a result of the division of Czechoslovakia into the Czech Republic and Slovakia.BrazilGene Dosage: The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.Sequence Alignment: The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.Nod2 Signaling Adaptor Protein: A NOD signaling adaptor protein that contains two C-terminal leucine-rich domains which recognize bacterial PEPTIDOGLYCAN. It signals via an N-terminal capase recruitment domain that interacts with other CARD SIGNALING ADAPTOR PROTEINS such as RIP SERINE-THEONINE KINASES. The protein plays a role in the host defense response by signaling the activation of CASPASES and the MAP KINASE SIGNALING SYSTEM. Mutations of the gene encoding the nucleotide oligomerization domain 2 protein have been associated with increased susceptibility to CROHN DISEASE.Data Interpretation, Statistical: Application of statistical procedures to analyze specific observed or assumed facts from a particular study.Histocompatibility Testing: Identification of the major histocompatibility antigens of transplant DONORS and potential recipients, usually by serological tests. Donor and recipient pairs should be of identical ABO blood group, and in addition should be matched as closely as possible for HISTOCOMPATIBILITY ANTIGENS in order to minimize the likelihood of allograft rejection. (King, Dictionary of Genetics, 4th ed)ItalyDiploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.Prevalence: The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.Multifactor Dimensionality Reduction: A statistical tool for detecting and modeling gene-gene interactions. It is a non-parametric and model-free approach.Principal Component Analysis: Mathematical procedure that transforms a number of possibly correlated variables into a smaller number of uncorrelated variables called principal components.Risk: The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome.Population Dynamics: The pattern of any process, or the interrelationship of phenomena, which affects growth or change within a population.Membrane Proteins: Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.Computational Biology: A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories for solving biological problems including manipulation of models and datasets.Mixed Function Oxygenases: Widely distributed enzymes that carry out oxidation-reduction reactions in which one atom of the oxygen molecule is incorporated into the organic substrate; the other oxygen atom is reduced and combined with hydrogen ions to form water. They are also known as monooxygenases or hydroxylases. These reactions require two substrates as reductants for each of the two oxygen atoms. There are different classes of monooxygenases depending on the type of hydrogen-providing cosubstrate (COENZYMES) required in the mixed-function oxidation.Logistic Models: Statistical models which describe the relationship between a qualitative dependent variable (that is, one which can take only certain discrete values, such as the presence or absence of a disease) and an independent variable. A common application is in epidemiology for estimating an individual's risk (probability of a disease) as a function of a given risk factor.Environment: The external elements and conditions which surround, influence, and affect the life and development of an organism or population.Demography: Statistical interpretation and description of a population with reference to distribution, composition, or structure.Protein Tyrosine Phosphatase, Non-Receptor Type 22: A subtype of non-receptor protein tyrosine phosphatases that is characterized by the presence of an N-terminal catalytic domain and a C-terminal PROLINE-rich domain. The phosphatase subtype is predominantly expressed in LYMPHOCYTES and plays a key role in the inhibition of downstream T-LYMPHOCYTE activation. Polymorphisms in the gene that encodes this phosphatase subtype are associated with a variety of AUTOIMMUNE DISEASES.Gene-Environment Interaction: The combined effects of genotypes and environmental factors together on phenotypic characteristics.Lactase: An enzyme which catalyzes the hydrolysis of LACTOSE to D-GALACTOSE and D-GLUCOSE. Defects in the enzyme cause LACTOSE INTOLERANCE.Electrophoresis, Starch Gel: Electrophoresis in which a starch gel (a mixture of amylose and amylopectin) is used as the diffusion medium.Vitamin K Epoxide Reductases: OXIDOREDUCTASES which mediate vitamin K metabolism by converting inactive vitamin K 2,3-epoxide to active vitamin K.Mutagenesis, Insertional: Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt GENETIC TRANSLATION of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation.Forensic Medicine: The application of medical knowledge to questions of law.AfricaEsterasesHLA-DR4 Antigen: An HLA-DR antigen which is associated with HLA-DRB1 CHAINS encoded by DRB1*04 alleles.Disease: A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown.Histocompatibility Antigens Class I: Membrane glycoproteins consisting of an alpha subunit and a BETA 2-MICROGLOBULIN beta subunit. In humans, highly polymorphic genes on CHROMOSOME 6 encode the alpha subunits of class I antigens and play an important role in determining the serological specificity of the surface antigen. Class I antigens are found on most nucleated cells and are generally detected by their reactivity with alloantisera. These antigens are recognized during GRAFT REJECTION and restrict cell-mediated lysis of virus-infected cells.PolandApolipoproteins A: Structural proteins of the alpha-lipoproteins (HIGH DENSITY LIPOPROTEINS), including APOLIPOPROTEIN A-I and APOLIPOPROTEIN A-II. They can modulate the activity of LECITHIN CHOLESTEROL ACYLTRANSFERASE. These apolipoproteins are low in atherosclerotic patients. They are either absent or present in extremely low plasma concentration in TANGIER DISEASE.Cattle: Domesticated bovine animals of the genus Bos, usually kept on a farm or ranch and used for the production of meat or dairy products or for heavy labor.Mathematics: The deductive study of shape, quantity, and dependence. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)Aryldialkylphosphatase: An enzyme which catalyzes the hydrolysis of an aryl-dialkyl phosphate to form dialkyl phosphate and an aryl alcohol. It can hydrolyze a broad spectrum of organophosphate substrates and a number of aromatic carboxylic acid esters. It may also mediate an enzymatic protection of LOW DENSITY LIPOPROTEINS against oxidative modification and the consequent series of events leading to ATHEROMA formation. The enzyme was previously regarded to be identical with Arylesterase (EC 3.1.1.2).Prospective Studies: Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.Diabetes Mellitus, Type 1: A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.Hybridization, Genetic: The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.Sex Factors: Maleness or femaleness as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or effect of a circumstance. It is used with human or animal concepts but should be differentiated from SEX CHARACTERISTICS, anatomical or physiological manifestations of sex, and from SEX DISTRIBUTION, the number of males and females in given circumstances.DNA Transposable Elements: Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.Oligonucleotide Array Sequence Analysis: Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.Arthritis, Rheumatoid: A chronic systemic disease, primarily of the joints, marked by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. Etiology is unknown, but autoimmune mechanisms have been implicated.Apolipoprotein C-III: A 9-kDa protein component of VERY-LOW-DENSITY LIPOPROTEINS and CHYLOMICRON REMNANTS. Apo C-III, synthesized in the liver, is an inhibitor of LIPOPROTEIN LIPASE. Apo C-III modulates the binding of chylomicron remnants and VLDL to receptors (RECEPTORS, LDL) thus decreases the uptake of triglyceride-rich particles by the liver cells and subsequent degradation. The normal Apo C-III is glycosylated. There are several polymorphic forms with varying amounts of SIALIC ACID (Apo C-III-0, Apo C-III-1, and Apo C-III-2).Taiwan3' Untranslated Regions: The sequence at the 3' end of messenger RNA that does not code for product. This region contains transcription and translation regulating sequences.DNA, Mitochondrial: Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.Reproduction: The total process by which organisms produce offspring. (Stedman, 25th ed)Regression Analysis: Procedures for finding the mathematical function which best describes the relationship between a dependent variable and one or more independent variables. In linear regression (see LINEAR MODELS) the relationship is constrained to be a straight line and LEAST-SQUARES ANALYSIS is used to determine the best fit. In logistic regression (see LOGISTIC MODELS) the dependent variable is qualitative rather than continuously variable and LIKELIHOOD FUNCTIONS are used to find the best relationship. In multiple regression, the dependent variable is considered to depend on more than a single independent variable.
Suppose that half the bacteria have allele A and the other half have allele B. Thus A and B each have allele frequency 1/2. ... Once an allele becomes fixed, genetic drift comes to a halt, and the allele frequency cannot change unless a new allele is ... An individual can have two copies of the same allele or two different alleles. We can call the frequency of one allele p and ... if the frequency p for allele A is 75% and the frequency q for allele B is 25%, then given unlimited time the probability A ...
"Graphical display of Allele Frequencies for Ala111Thr". Allele Frequency Database. Retrieved 10 October 2012. "ALFRED - ... Allele Frequency Database. Retrieved 10 October 2012. Pagani, Luca; Toomas Kivisild, Ayele Tarekegn, Rosemary Ekong, Chris ... So, while the MC1Rf gene does not significantly contribute to variation in skin colour around the world, the allele found in ... collected from studies on MC1R gene has shown that there is a lack of diversity in dark-skinned African samples in the allele ...
"Graphical display of Allele Frequencies for Ala111Thr". Allele Frequency Database. Retrieved 10 October 2012. "ALFRED - ... Allele Frequency Database. Retrieved 10 October 2012. Pagani, Luca; Toomas Kivisild; Ayele Tarekegn; Rosemary Ekong; Chris ... One of the alleles of the gene has an 80% occurrence rate in Eurasian populations. The ASIP gene has a 75-80% variation rate ... 2003). "Genetic association and cellular function of MC1R variant alleles in human pigmentation". Annals of the New York ...
... allele frequencies in Amerindians". Annals of Human Genetics. 67: 367-371. doi:10.1046/j.1469-1809.2003.00027.x. PMID 12914571 ...
Consider an extra allele frequency, r. The two-allele case is the binomial expansion of (p + q)2, and thus the three-allele ... From this, allele frequencies can be calculated: p. =. 2. ×. o. b. s. (. AA. ). +. o. b. s. (. Aa. ). 2. ×. (. o. b. s. (. AA. ... but the allele frequencies will change over time. *Selection, in general, causes allele frequencies to change, often quite ... Similarly, the genotype frequencies depend only on the allele frequencies, and so, after time t=1 are also constant in time. ...
B8 frequencies are less useful in Southern and Eastern Europe, and there is no B allele that is in strong LD with DR3-DQ2. ... Sánchez-Velasco P, Leyva-Cobián F (2001). "The HLA class I and class II allele frequencies studied at the DNA level in the ... Middleton D, Williams F, Hamill M, Meenagh A (2000). "Frequency of HLA-B alleles in a Caucasoid population determined by a two- ... Saito S, Ota S, Yamada E, Inoko H, Ota M (2000). "Allele frequencies and haplotypic associations defined by allelic DNA typing ...
Allele frequency. References[change , change source]. *↑ 1.0 1.1 1.2 1.3 King R.C. Stansfield W.D. & Mulligan P.K. 2006. A ... This is when the dominant allele is not completely dominant over the recessive allele. This means both the alleles have a ... Different alleles at a locus[change , change source]. There are three ways alleles at a locus may differ.[2]p6 They are: *By ... The allele that masks the other is said to be dominant to the latter, and the alternative allele is said to be recessive to the ...
Davis and Barry 1977 tested allele frequencies in domestic cats. Among the 265 cats observed, there were 101 males and 164 ... Davis, Brian; Davis, Barry (1977). "Allele frequencies in a cat population in Budapest". Journal of Heredity. 68: 31-34. ... Results showed few differences in the frequency of malformations among life-history changes, suggesting that malformed larvae ...
"Allele Frequency For Polymorphic Site: rs2733832". ALFRED. Retrieved 23 June 2016. PDB: 1WX3​; Matoba Y, Kumagai T, Yamamoto A ... The derived TYR allele (rs2733832) is associated with lighter skin pigmentation in human populations. It is most common in ... Europe, but is also found at lower, moderate frequencies in Central Asia, the Middle East, North Africa, and among the San and ...
However, microsatellite allele frequencies varied between the two groups. Males of these bees store aromatic compounds ...
The frequency of Rh factor blood types and the RhD neg allele gene differs in various populations. If both of a child's parents ... link) Skaik, Younis Abed El-Wahhab (July-December 2011). "The Rh allele frequencies in Gaza city in Palestine". Asian Journal ... could also explain the striking variation in the frequency of RhD-negative alleles between populations. According to some ... The allele was thus often assumed in early blood group analyses to have been typical of populations on the continent; ...
"Allele Frequency For Polymorphic Site: rs916977". ALFRED. Retrieved 22 June 2016. Nagase T, Ishikawa K, Nakajima D, et al. ( ... The HERC2 gene's derived rs916977 allele is most common in Europe; particularly in the north and east, where it nears fixation ... The variant is also found at high frequencies in North Africa, the Near East, Oceania and the Americas. GRCm38: Ensembl release ...
HLA Allele and Haplotype Frequency Database. ...
Null alleles in this case can sometimes be indicated by an excessive frequency of homozygotes causing deviations from Hardy- ... "A measure of population subdivision based on microsatellite allele frequencies". Genetics. 139 (1): 457-462. ISSN 0016-6731. ... "null allele" in a gel assay), thus only one allele is amplified (from the non-mutated sister chromosome), and the individual ... It may then be necessary to amplify the microsatellite using a different set of primers.[14][69] Null alleles are caused ...
... a change is a population's allele frequencies due to chance. For example, the bottleneck effect; when natural disasters ... What may make the bottleneck effect a sampling error is that certain alleles, due to natural disaster, are more common while ... nor is it the same as projections based on an assessed probability or frequency. Sampling always refers to a procedure of ...
Slatkin, M. (1995). "A measure of population subdivision based on microsatellite allele frequencies". Genetics. 139 (1): 457- ... "Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population". Molecular Biology and Evolution. 12 ...
These include number of alleles, observed and expected heterozygosity, and allele frequencies. The SMM model takes into account ... Valdes, A. M.; Slatkin, M.; Freimer, N. B. (1993). "Allele Frequencies at Microsatellite Loci: The Stepwise Mutation Model ... Variance in allele sizes are used to make inferences about the genetic distance between individuals or populations. By ... The original model assumes that if an allele has a mutation that causes it to change in state, mutations that occur in ...
... a worldwide database for genetic variation allele frequencies updated". Nucleic Acids Res. England. 39 (Database issue): D926- ... The Frequency of INherited Disorders database (FINDbase) is a database of frequencies of causative genetic variations worldwide ... "Developments in FINDbase database for clinically relevant genomic variation allele frequencies". Nucleic Acids Res. England. 42 ... FINDbase was founded in 2006 to be a relational database for these frequencies of causative genetic variations of inherited ...
... allele frequencies in East Asian populations is summarized in Table S of this paper. CYP2C9*13 allele was correlated ... Frequency analysis indicated approximately 2% of the Chinese population carry the allele. CYP2C9*13 was found in Japanese and ... "Frequency of CYP2C9 variant alleles, including CYP2C9*13 in a Korean population and effect on glimepiride pharmacokinetics". J ... 59 (1): 14-7. doi:10.1111/j.1365-2125.2005.02223.x. "Allele and genotype frequencies of CYP2C9 in a Korean population". Br J ...
Null alleles in this case can sometimes be indicated by an excessive frequency of homozygotes causing deviations from Hardy- ... Slatkin, M. (1995-01-01). "A measure of population subdivision based on microsatellite allele frequencies". Genetics. 139 (1): ... "null allele" in a gel assay), thus only one allele is amplified (from the non-mutated sister chromosome), and the individual ... Null alleles are caused especially by mutations at the 3' section, where extension commences. In species or population analysis ...
Excluding this A30-cw5-B18 the A*3002 allele is most frequent in sub-Saharan Africa. The frequency of this allele is highest in ... "New allele frequency database: www.allelefrequencies.net". Tissue Antigens. 61 (5): 403-407. doi:10.1034/j.1399-0039.2003.00062 ... A30-B18 frequencies at trace levels may not indicate a common origin with A30::DQ2, Two alleles are found of A30 in Europe, A* ... Subsequently, studies by Antonio Arniaz-Villena and 4 other groups on HLA Class I loci revealed that allele frequency patterns ...
"Semantic web-based integration of cancer pathways and allele frequency data". Cancer Informatics. 8: 19-30. doi:10.4137/CIN. ...
Middleton D, Menchaca L, Rood H, Komerofsky R (2003). "New allele frequency database: http://www.allelefrequencies.net". Tissue ... Alleles[edit]. There are 71 alleles, 57 amino acid sequence variants in B51 of which 4 are nulls. Of these only 9 are frequent ... Serotypes B51, B5, B52, and B53 recognition of some HLA B*51 allele-group gene products[3] B*51. B51 B5 B52 B53. Sample ... There are a large number of alleles within the B*51 allele group. B51 is associated with several diseases, including Behçet's ...
Song EY, Park H, Roh EY, Park MH (2004). "HLA-DRB1 and -DRB3 allele frequencies and haplotypic associations in Koreans". Hum. ... Serotypes are unknown the following alleles: DRB1**1409, *1419 to *1462 DRB1*1402: juvenile rheumatoid arthritis, increased ... "HLA-DRB1 alleles and HLA-DRB1 shared epitopes are markers for juvenile rheumatoid arthritis subgroups in Colombian mestizos". ...
Within a population, SNPs can be assigned a minor allele frequency - the lowest allele frequency at a locus that is observed in ... This is simply the lesser of the two allele frequencies for single-nucleotide polymorphisms. Variations in the DNA sequences of ... Tahira, T.; Kukita, Y.; Higasa, K.; Okazaki, Y.; Yoshinaga, A.; Hayashi, K. (2009). "Estimation of SNP allele frequencies by ... It refers to the phenomenon that SNP allele or DNA sequence that are close together in the genome tend to be inherited together ...
Frequency. 392 million (2015)[11]. Type 2 diabetes (T2D), formerly known as adult-onset diabetes, is a form of diabetes that is ... The TCF7L2 allele, for example, increases the risk of developing diabetes by 1.5 times and is the greatest risk of the common ...
Gene Frequency ; Genes, Reporter ; Haplotypes ; Humans ; Linear Models ; Liver Neoplasms ; Luciferases - genetics ; Male ; ... the previously observed effect of the CYP2C9*3 allele is independent of the VKORC1 gene effect. These 2 polymorphisms account ...
... are the first allele frequency and genotype prevalence estimates of human genetic variants for the entire U.S. population. ... FCGR2A Allele and Genotype Frequencies.  alert icon Archived: This Page Is No Longer Being Updated This web page is archived ... Allele. % (95% CI). Chi-square. P-value†. Genotype. % (95% CI). Chi-square. P-value†. HW. P-value‡. ... Allele. % (95% CI). Chi-square. P-value. Genotype. % (95% CI). Chi-square. P-value. ...
... Kevin Mulcahy K.Mulcahy at Sheffield.ac.uk Fri Jul 7 09:51:54 EST 1995 *Previous message: HLA allele ... In addition, could you also tell me the frequencies of the alleles in the population? Id be most grateful if anybody could ... Can anybody please give me an up-to-date list of all the alleles of the following HLA specificities: HLA-A1, A2, A3, A11, A24, ... Previous message: HLA allele frequencies *Next message: HLA allele frequencies * Messages sorted by: [ date ] [ thread ] [ ...
1: Timing clonal copy number gains using allele frequencies of point mutations.. From: The evolutionary history of 2,658 ... 1: Timing clonal copy number gains using allele frequencies of point mutations. , Nature ...
... are the first allele frequency and genotype prevalence estimates of human genetic variants for the entire U.S. population. ... Allele. % (95% CI). Chi-square. P-value†. Genotype. % (95% CI). Chi-square. P-value†. HW. P-value‡. ... Allele. % (95% CI). Chi-square. P-value. Genotype. % (95% CI). Chi-square. P-value. ... Allele. % (95% CI). Chi-square. P-value. Genotype. % (95% CI). Chi-square. P-value. ...
Forces that determine the allele frequencies in natural populations include genetic drift, natural selection, migration and ... A balance of opposing forces can, in some cases, cause allele frequencies to approach a stationary distribution over time. The ... Stationary Allele Frequency Distributions. Bruce Rannala, University of California, Davis, California, USA ... If evolutionary forces such as natural selection, genetic drift and migration remain constant allele frequencies may reach to a ...
For 3 alleles see Allele § Allele and genotype frequencies) Allele frequency can always be calculated from genotype frequency, ... Earth Human STR Allele Frequencies Database VWA 17 Allele Frequency in Human Population (Poster) Allele Frequencies in ... Allele frequency, or gene frequency, is the relative frequency of an allele (variant of a gene) at a particular locus in a ... Beneficial alleles tend to increase in frequency, while deleterious alleles tend to decrease in frequency. Even when an allele ...
Knowledge of the allele distribution in different populations may be considered when... ... All alleles were in Hardy-Weinberg equilibrium (p , 0.05). The allele frequencies in the Russian population were as follows: ... Results: The allele frequencies in the Kazakh population were determined for CYP2C9*2 (0.02), CYP2C9*3 (0.03), VKORC1 c. 173+ ... Allele Frequency and Genotype Distribution of 9 SNPs in the Kazakh Population. *A Romanova A ...
Allele Frequency Global Tracking (AFGT) - allows searching for allele frequency distribution at global and regional level. STR ... The Earth Human STR Allele Frequencies Database is a scientific project based on a dynamic web interface and a relational ... Regional Profile Frequency (RPF) - allows calculating the frequency of a genetic profile at global and regional level, base on ... the allele frequencies gradient distribution over vast geographical areas. ...
Is this proof of Adam and Eve? Far from it. It merely shows they might be possible. This model is scientific and as such is falsifiable.. ...
7) from Waples (1989a, Equation 9), where p¯0,A, p¯t,A, p¯0,a, and p¯t,a are the allele frequencies of allele types A and a in ... 6) where n¯0, n¯t1, n¯t2 and p¯0, p¯t1, p¯t2 represent sample allele counts and population allele frequencies, respectively, at ... the variance in allele frequencies among identical loci with initial allele frequency p is p(1 - p)/2N after one generation. ... have the power to change allele frequencies and would therefore change the estimated value of N using temporal allele frequency ...
The malaria hypothesis predicts that the frequency of the sickle allele, which is high in malaria-endemic African populations ... The difference in frequency of the sickle allele was small (5.47% in the first cohort and 5.38% in the second screening cohort ... The frequency of the sickle allele in Jamaica has not declined over the last 22 years. *Hanchard N ... Refining the expectations for allele and trait frequency change for Jamaica and other similar populations is an area for future ...
Allele frequencies, detected from the 250 Sardinian individuals (Table 5), were compared with frequencies previously reported ... Aims. This study aimed to analyze the determination of allele frequencies in Sardinians and the comparison to frequencies found ... Table 6: CYP2D6 allele frequencies detected in 250 healthy Sardinian people and previous frequencies found in reference ... As for other alleles:(i)CYP2D6*1, *3 and *4 frequencies are similar to reference studies; only subvariant CYP2D6*1A, *1B, *1D* ...
The larger the size of the sample from which the allele frequencies are available, the more independent genetic markers are ... whether a person with known genotypes at a number of markers was part of a pool of DNA from which only frequencies of alleles ...
Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies.. Falush D1, ... In addition, we describe a new prior model for the allele frequencies within each population, which allows identification of ...
Most alleles with frequencies of ,0.02 have arisen since migration out of Africa, whereas many alleles with frequencies ,0.05 ... the expected frequency of a heterozygote between alleles or haplotypes with frequencies qi,qj is 2qiqj(1 - F) and the expected ... minor allele frequency x, sample size n, and inbreeding F). If x exceeds 0, but the frequency of the corresponding homozygote ... small allele frequencies are associated with low ε, indicative of low frequency before migration out of Africa or later by ...
... Narender Kumar,1 Akhil Kapoor,2 Ashok Kalwar,3 ... T. Chandra and A. Gupta, "Frequency of ABO and rhesus blood groups in blood donors," Asian Journal of Transfusion Science, vol ... M. Nakao, K. Matsuo, S. Hosono et al., "ABO blood group alleles and the risk of pancreatic cancer in a Japanese population," ... N. Kermarrec, F. Roubinet, P. A. Apoil, and A. Blancher, "Comparison of allele O sequences of the human and non-human primate ...
Hi, I need help on finding out Minor Allele Frequency or what is the algorithms to find this , I have a snp count of 100 out of ... Computational-biology] looking for information on Caluation of Minor Allele Frequency. Tradeorganizer via comp-bio%40net.bio. ... which i wan to find out Minor Allele for each genotypes. Regards *Previous message: [Computational-biology] 6th Georgia Tech - ...
Author Summary With modern genotyping technology, it is now possible to obtain large amounts of genetic data from many populations in a species. An important question that can be addressed with these data is: what is the history of these populations? There is a long history in population genetics of inferring the relationships among populations as a bifurcating tree, analogous to phylogenetic trees for representing the evolution of species. However, it has long been recognized that, since populations from the same species exchange genes, simple bifurcating trees may be an incorrect representation of population histories. We have developed a method to address this issue, using a model which allows for both population splits and gene flow. In application to humans, we show that we are able to identify a number of both previously known and unknown episodes of gene flow in history, including gene flow into Cambodia of a population only distantly related to modern East Asia. In application to dogs, we show
The NQO1*3 allele was not observed in Inuit individuals, and occurred at a lower frequency than the NQO*2 allele in Caucasians ... The NQO1*2 allele was found at significantly higher frequencies in Chinese (0.49) and Native North American populations (Inuit ... NAD(P)H:quinone oxidoreductase: polymorphisms and allele frequencies in Caucasian, Chinese and Canadian Native Indian and Inuit ... Three alleles have been identified in the human population: the functional Arg139/Pro187 allele (which we have termed NQO1*1); ...
A total of 344 unrelated Japanese adults were genotyped to determine allele frequencies and evaluate forensic parameters for 10 ... Allele frequency Japanese population Investigator® HDplex kit Non-CODIS Electronic supplementary material. The online version ... Allele frequencies and forensic genetic parameters of 10 supplementary and two CODIS loci in a Japanese population genotyped ... A total of 344 unrelated Japanese adults were genotyped to determine allele frequencies and evaluate forensic parameters for 10 ...
... drift in a haploid WrightndashFisher population model with 1000 individuals A mutant allele is initially present at a frequency ... Genetic drift is the random change in allele frequencies due to sampling a finite number of parents The chart shows the allele ... the simulation of change in allele frequency with random sampling of parents. The allele frequency in generation , , is drawn ... Genetic drift is the random change in allele frequencies due to sampling a finite number of parents. The chart shows the allele ...
Conclusion: This study shows variability in the frequency of Pfcrt-K76T and PfMDR1-N86Y polymorphisms during the study period, ... showed large variations in monthly frequency of PfMDR1-N86Y and Pfcrt-K76T as the mutant genotypes decreased from 68.4%±15% and ... The renewed malaria eradication efforts require an understanding of the seasonal patterns of frequency of polymorphic variants ... Five-year tracking of Plasmodium falciparum allele frequencies in a holoendemic area with indistinct seasonal transitions ...
How to solve Allele Frequencies?. Discussion of everything related to the Theory of Evolution. ... In a diploid grasshopper population of 50 individuals, if there are 40 recessive alleles, what is the frequency of dominant ... In the same grasshopper population, what would you expect to be the genotypic frequencies in the next generation if it were in ... I guess you have 100 alleles total, right? (50 diploids) and 40 of them are recessive, how many are dominant? ...
Find out information about Allele frequencies. The fraction of all alleles at a given locus constituted by a particular allele ... Also known as gene frequency Explanation of Allele frequencies ... Allele frequencies , Article about Allele frequencies by The ... allele frequency. (redirected from Allele frequencies). Also found in: Medical. allele frequency. [ə′lēl ¦frē·kwən·sē] ( ... The highest allele frequencies are observed among North European populations--for example in Denmark being 12.. Frequency of ...
  • Taking advantage of the likelihood framework, we extend the model to include exponential growth and show that temporal allele frequency data from three or more sampling events can be used to test for population growth. (genetics.org)
  • The 82 allelic variants and numerous subvariants reported to date are summarized in the Human CYP Allele Nomenclature Committee website [ 5 ]. (hindawi.com)
  • A key challenge is to identify, among the myriad alleles, those variants that have an effect on molecular function, phenotypes, and reproductive fitness. (nih.gov)
  • Unlike existing methods, it compares sets of neutral and deleterious sequence variants at the same allele frequency. (nih.gov)
  • When applied to human sequence data from the Genome of the Netherlands Project, our approach distinguishes low-frequency coding non-synonymous variants from synonymous and non-coding variants at the same allele frequency and discriminates between sets of variants independently predicted to be benign or damaging for protein structure and function. (nih.gov)
  • The form of this distribution is not influenced by initial allele frequencies, but instead is determined by the relative magnitudes of different evolutionary forces. (els.net)
  • The marker CC-30 was significantly out of HWE and showed a fairly high allele rate in these analyses, so it is not likely that this marker will prove to be reliable for use in this species. (nih.gov)
  • Indeed, statistical analyses suggested strong negative correlations between the allele frequency and historical parameters including the colonization dates by Mediterranean civilisations. (biomedcentral.com)
  • 1000 Genomes already provides an annotation on which is the minor allele (see the VCF file). (biostars.org)
  • I think that the answer may depend on how reliable are the annotations on the ancestral alleles: for 1000 Genomes, you can pretty much trust the ancestral state annotations, so you can use the deltaDAF. (biostars.org)
  • For my ecological selection model, I have used a generalized additive model (GAM) with the binomial allele frequency as the response variable (129 sites sampled across Fennoscandinavia with typically 10 to 20 individuals sampled at each site) and several climatic and growing season variables as the predictor variables. (stackexchange.com)
  • The NQO1*3 allele was not observed in Inuit individuals, and occurred at a lower frequency than the NQO*2 allele in Caucasians (0.05), Chinese (0.04) and Canadian Native Indians (0.01). (nih.gov)
  • Allele frequencies for CYP3A5 3(0.76) and CYP2C9 3(0.04) are similar to those observed in Japanese people. (uchile.cl)