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, 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.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.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Genetic Variation: Genotypic differences observed among individuals in a population.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.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.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.Homozygote: An individual in which both alleles at a given locus are identical.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.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.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.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.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).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.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.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.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.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Asian Continental Ancestry Group: Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.Recombination, Genetic: Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Selection, Genetic: Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.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.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.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.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.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.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.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.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.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).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.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.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.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Genes, Lethal: Genes whose loss of function or gain of function MUTATION leads to the death of the carrier prior to maturity. They may be essential genes (GENES, ESSENTIAL) required for viability, or genes which cause a block of function of an essential gene at a time when the essential gene function is required for viability.Heterozygote Detection: Identification of genetic carriers for a given trait.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.Vibration: A continuing periodic change in displacement with respect to a fixed reference. (McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.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.Acoustic Stimulation: Use of sound to elicit a response in the nervous system.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.China: A country spanning from central Asia to the Pacific Ocean.Electric Stimulation: Use of electric potential or currents to elicit biological responses.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)Action Potentials: Abrupt changes in the membrane potential that sweep along the CELL MEMBRANE of excitable cells in response to excitation stimuli.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.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.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.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.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.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.African Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Africa.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.Mutagenesis: Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.JapanApolipoprotein 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.Computer Simulation: Computer-based representation of physical systems and phenomena such as chemical processes.Genetic Complementation Test: A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.Mice, Inbred C57BLAuditory Threshold: The audibility limit of discriminating sound intensity and pitch.Suppression, Genetic: Mutation process that restores the wild-type PHENOTYPE in an organism possessing a mutationally altered GENOTYPE. The second "suppressor" mutation may be on a different gene, on the same gene but located at a distance from the site of the primary mutation, or in extrachromosomal genes (EXTRACHROMOSOMAL INHERITANCE).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.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.Periodicity: The tendency of a phenomenon to recur at regular intervals; in biological systems, the recurrence of certain activities (including hormonal, cellular, neural) may be annual, seasonal, monthly, daily, or more frequently (ultradian).Cloning, Molecular: The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.European Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Europe.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.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).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.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.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.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.Models, Biological: Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.Algorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task.Saccharomyces cerevisiae: A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.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.Electroencephalography: Recording of electric currents developed in the brain by means of electrodes applied to the scalp, to the surface of the brain, or placed within the substance of the brain.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.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.Neurons: The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the NERVOUS SYSTEM.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.Escherichia coli: A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.Sound: A type of non-ionizing radiation in which energy is transmitted through solid, liquid, or gas as compression waves. Sound (acoustic or sonic) radiation with frequencies above the audible range is classified as ultrasonic. Sound radiation below the audible range is classified as infrasonic.DNA-Binding Proteins: Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.HLA-DQ alpha-Chains: Transmembrane proteins that form the alpha subunits of the HLA-DQ antigens.Biological Evolution: The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.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.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.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.Fourier Analysis: Analysis based on the mathematical function first formulated by Jean-Baptiste-Joseph Fourier in 1807. The function, known as the Fourier transform, describes the sinusoidal pattern of any fluctuating pattern in the physical world in terms of its amplitude and its phase. It has broad applications in biomedicine, e.g., analysis of the x-ray crystallography data pivotal in identifying the double helical nature of DNA and in analysis of other molecules, including viruses, and the modified back-projection algorithm universally used in computerized tomography imaging, etc. (From Segen, The Dictionary of Modern Medicine, 1992)Plasmids: Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.Genes, Plant: The functional hereditary units of PLANTS.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.Blotting, Southern: A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.RNA, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.Age Factors: Age as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or the effect of a circumstance. It is used with human or animal concepts but should be differentiated from AGING, a physiological process, and TIME FACTORS which refers only to the passage of time.Mice, Transgenic: Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.Temperature: The property of objects that determines the direction of heat flow when they are placed in direct thermal contact. The temperature is the energy of microscopic motions (vibrational and translational) of the particles of atoms.Hearing: The ability or act of sensing and transducing ACOUSTIC STIMULATION to the CENTRAL NERVOUS SYSTEM. It is also called audition.Sound Spectrography: The graphic registration of the frequency and intensity of sounds, such as speech, infant crying, and animal vocalizations.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.Gene Dosage: The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.Diploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.Retrospective Studies: Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.Loss of Heterozygosity: The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.Frameshift Mutation: A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.Ethnic Groups: A group of people with a common cultural heritage that sets them apart from others in a variety of social relationships.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.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.Genotyping Techniques: Methods used to determine individuals' specific ALLELES or SNPS (single nucleotide polymorphisms).Cells, Cultured: Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.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.Genes, Fungal: The functional hereditary units of FUNGI.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.Signal Processing, Computer-Assisted: Computer-assisted processing of electric, ultrasonic, or electronic signals to interpret function and activity.BrazilElectrophysiology: The study of the generation and behavior of electrical charges in living organisms particularly the nervous system and the effects of electricity on living organisms.Pitch Perception: A dimension of auditory sensation varying with cycles per second of the sound stimulus.Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.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).Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Oscillometry: The measurement of frequency or oscillation changes.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.Mutagens: Chemical agents that increase the rate of genetic mutation by interfering with the function of nucleic acids. A clastogen is a specific mutagen that causes breaks in chromosomes.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.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.Chromosome Deletion: Actual loss of portion of a chromosome.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.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.Micronucleus Tests: Induction and quantitative measurement of chromosomal damage leading to the formation of micronuclei (MICRONUCLEI, CHROMOSOME-DEFECTIVE) in cells which have been exposed to genotoxic agents or IONIZING RADIATION.Jews: An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.Cell Line: Established cell cultures that have the potential to propagate indefinitely.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.Cats: The domestic cat, Felis catus, of the carnivore family FELIDAE, comprising over 30 different breeds. The domestic cat is descended primarily from the wild cat of Africa and extreme southwestern Asia. Though probably present in towns in Palestine as long ago as 7000 years, actual domestication occurred in Egypt about 4000 years ago. (From Walker's Mammals of the World, 6th ed, p801)Infant, Newborn: An infant during the first month after birth.Restriction Mapping: Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.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).HLA-C Antigens: Class I human histocompatibility (HLA) antigens encoded by a small cluster of structural genes at the C locus on chromosome 6. They have significantly lower immunogenicity than the HLA-A and -B determinants and are therefore of minor importance in donor/recipient crossmatching. Their primary role is their high-risk association with certain disease manifestations (e.g., spondylarthritis, psoriasis, multiple myeloma).Acoustics: The branch of physics that deals with sound and sound waves. In medicine it is often applied in procedures in speech and hearing studies. With regard to the environment, it refers to the characteristics of a room, auditorium, theatre, building, etc. that determines the audibility or fidelity of sounds in it. (From Random House Unabridged Dictionary, 2d ed)Haploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.Inheritance Patterns: The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.Zea mays: A plant species of the family POACEAE. It is a tall grass grown for its EDIBLE GRAIN, corn, used as food and animal FODDER.Questionnaires: Predetermined sets of questions used to collect data - clinical data, social status, occupational group, etc. The term is often applied to a self-completed survey instrument.Auditory Perception: The process whereby auditory stimuli are selected, organized, and interpreted by the organism.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)Treatment Outcome: Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.DNA, Bacterial: Deoxyribonucleic acid that makes up the genetic material of bacteria.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.DNA Repair: The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.Genetic Drift: The fluctuation of the ALLELE FREQUENCY from one generation to the next.Bacterial Proteins: Proteins found in any species of bacterium.DNA, Plant: Deoxyribonucleic acid that makes up the genetic material of plants.Crossing Over, Genetic: The reciprocal exchange of segments at corresponding positions along pairs of homologous CHROMOSOMES by symmetrical breakage and crosswise rejoining forming cross-over sites (HOLLIDAY JUNCTIONS) that are resolved during CHROMOSOME SEGREGATION. Crossing-over typically occurs during MEIOSIS but it may also occur in the absence of meiosis, for example, with bacterial chromosomes, organelle chromosomes, or somatic cell nuclear chromosomes.Gene Expression Regulation: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.DNA, Neoplasm: DNA present in neoplastic tissue.Micronuclei, Chromosome-Defective: Defective nuclei produced during the TELOPHASE of MITOSIS or MEIOSIS by lagging CHROMOSOMES or chromosome fragments derived from spontaneous or experimentally induced chromosomal structural changes.Inbreeding: The mating of plants or non-human animals which are closely related genetically.Transcription, Genetic: The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.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.Auditory Pathways: NEURAL PATHWAYS and connections within the CENTRAL NERVOUS SYSTEM, beginning at the hair cells of the ORGAN OF CORTI, continuing along the eighth cranial nerve, and terminating at the AUDITORY CORTEX.Gene Targeting: The integration of exogenous DNA into the genome of an organism at sites where its expression can be suitably controlled. This integration occurs as a result of homologous recombination.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)Drosophila: A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.Gene Expression: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.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.Pigmentation: Coloration or discoloration of a part by a pigment.Genes, Suppressor: Genes that have a suppressor allele or suppressor mutation (SUPPRESSION, GENETIC) which cancels the effect of a previous mutation, enabling the wild-type phenotype to be maintained or partially restored. For example, amber suppressors cancel the effect of an AMBER NONSENSE MUTATION.Trinucleotide Repeats: Microsatellite repeats consisting of three nucleotides dispersed in the euchromatic arms of chromosomes.Fungal Proteins: Proteins found in any species of fungus.Genes, MHC Class II: Genetic loci in the vertebrate major histocompatibility complex that encode polymorphic products which control the immune response to specific antigens. The genes are found in the HLA-D region in humans and in the I region in mice.Sequence Homology, Amino Acid: The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.Breeding: The production of offspring by selective mating or HYBRIDIZATION, GENETIC in animals or plants.Photic Stimulation: Investigative technique commonly used during ELECTROENCEPHALOGRAPHY in which a series of bright light flashes or visual patterns are used to elicit brain activity.Hybridization, Genetic: The genetic process of crossbreeding between genetically dissimilar parents to produce a hybrid.Contrast Sensitivity: The ability to detect sharp boundaries (stimuli) and to detect slight changes in luminance at regions without distinct contours. Psychophysical measurements of this visual function are used to evaluate visual acuity and to detect eye disease.Synaptic Transmission: The communication from a NEURON to a target (neuron, muscle, or secretory cell) across a SYNAPSE. In chemical synaptic transmission, the presynaptic neuron releases a NEUROTRANSMITTER that diffuses across the synaptic cleft and binds to specific synaptic receptors, activating them. The activated receptors modulate specific ion channels and/or second-messenger systems in the postsynaptic cell. In electrical synaptic transmission, electrical signals are communicated as an ionic current flow across ELECTRICAL SYNAPSES.X Chromosome: The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.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.Follow-Up Studies: Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.Drug Resistance: Diminished or failed response of an organism, disease or tissue to the intended effectiveness of a chemical or drug. It should be differentiated from DRUG TOLERANCE which is the progressive diminution of the susceptibility of a human or animal to the effects of a drug, as a result of continued administration.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.Mice, Knockout: Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.EuropeLogistic 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.Transformation, Genetic: Change brought about to an organisms genetic composition by unidirectional transfer (TRANSFECTION; TRANSDUCTION, GENETIC; CONJUGATION, GENETIC, etc.) and incorporation of foreign DNA into prokaryotic or eukaryotic cells by recombination of part or all of that DNA into the cell's genome.Sensory Thresholds: The minimum amount of stimulus energy necessary to elicit a sensory response.Probability: The study of chance processes or the relative frequency characterizing a chance process.Severity of Illness Index: Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.Chromosomes: In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Genes, Bacterial: The functional hereditary units of BACTERIA.
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 ...
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 ...
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 ...
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. ...
"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 ...
"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 ...
Differences in allele frequencies contribute to group differences in the incidence of some monogenic diseases, and they may ... Alleles occur at different frequencies in different human populations. Populations that are more geographically and ancestrally ... and ecoregion are due to subtle shifts in allele frequency". Proceedings of the National Academy of Sciences of the United ... the frequency of causative alleles usually correlates best with ancestry, whether familial (for example, Ellis-van Creveld ...
is the number of alleles at the target locus, and f. i. {\displaystyle f_{i}}. is the allele frequency of the i. t. h. {\ ... The frequency of different alleles varies throughout the population. Some genes may have two alleles with equal distribution. ... For other genes, one allele may be common, and another allele may be rare. Sometimes, one allele is a disease-causing variation ... others have only one allele because deviation from that allele can be harmful or fatal. But most genes have two or more alleles ...
Rare alleles present at high frequencies (excess of rare alleles) Recent selective sweep, population expansion after a recent ... Rare alleles present at low frequency (lack of rare alleles) Balancing selection, sudden population contraction ... When looking at the human population as a whole, we say that the population frequency of a neutral mutation fluctuates randomly ... A positive Tajima's D signifies low levels of both low and high frequency polymorphisms, indicating a decrease in population ...
... allele frequencies in Amerindians". Annals of Human Genetics. 67: 367-371. doi:10.1046/j.1469-1809.2003.00027.x. PMID 12914571 ...
"New allele frequency database: http://www.allelefrequencies.net". Tissue Antigens. 61 (5): 403-7. doi:10.1034/j.1399-0039.2003. ... For A29, the alpha "A" chain are encoded by the HLA-A*29 allele group and the β-chain are encoded by B2M locus. This group ... Allele Query Form IMGT/HLA - European Bioinformatics Institute Middleton D, Menchaca L, Rood H, Komerofsky R (2003). " ...
derived from IMGT/HLA Middleton D, Menchaca L, Rood H, Komerofsky R (2003). "New allele frequency database: http://www. ... frequency and nature of errors produced in amplification". Proc. Natl. Acad. Sci. U.S.A. 87 (7): 2833-7. doi:10.1073/pnas.87.7. ...
derived from IMGT/HLA Middleton D, Menchaca L, Rood H, Komerofsky R (2003). "New allele frequency database: http://www. ... The serotype identifies certain B*15 gene-allele protein products of HLA-B. B62 is largest of many split antigens of the broad ... B62 best identifies the B*1501, B*1504, B*1507 B*1525 and B*1533 allele products. Marsh SG, Albert ED, Bodmer WF, et al. (2005 ...
derived from IMGT/HLA Middleton D, Menchaca L, Rood H, Komerofsky R (2003). "New allele frequency database: http://www. ... B67 is region specific recombinant haplotype formed by the gene conversion of B*39, an allele common along the Northwest ...
As people traveled east the frequency of many alleles dropped or disappeared from migrants. However B*15 persisted, expanded ... Some of these alleles are discussed below. Other alleles, such as B*46 evolved from B*15. One reason for the diversity of this ... The serotype identifies the B*15 gene-allele protein products of HLA-B. B15 is a broad antigen can be subdivided into several ... HLA-B15 allele *1502 is associated with the severe skin conditions Stevens-Johnson syndrome (SJS) and toxic epidermal ...
The allelic frequency of a population is the ratio of the copies of one specific allele that share the same form compared to ... Genetic drift is a cause of allelic frequency change within populations of a species. Alleles are different variations of ... In any offspring, the alleles present are samples of the previous generations alleles, and chance plays a role in whether an ... Weinberg principle states that a large population in Hardy-Weinberg equilibrium will have no change in the frequency of alleles ...
An allele is subject to negative frequency dependent selection if a rare allelic variant has a selective advantage. For example ... If an allele provides a fitness benefit, its frequency will increase within a population - selection is directional or positive ... These are determined by three main types of selection dynamics: negative frequency-dependent selection when a rare allele has a ... Host-parasite coevolution is characterized by reciprocal genetic change and thus changes in allele frequencies within ...
"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. ...
β-thalassemia, with frequencies up to 10% in parts of Italy;. *HbE, which attains frequencies up to 55% in Thailand and other ... There are four alleles of the gene which encodes the antigen, Ge-1 to Ge-4. Three types of Ge antigen negativity are known: Ge- ... If the frequency of the heterozygote is 0.40 the sickle-cell gene frequency (q) can be calculated from the Hardy-Weinberg ... frequency is 40%, which means that the frequency of the sickle-cell gene is 0.255 and 6.5% of children born are SS homozygotes ...
2004). "Discrepancies in dbSNP confirmation rates and allele frequency distributions from varying genotyping error rates and ... and also that the minor allele frequency is greater than 10% for approximately 80% of the SNPs that are not false positives. ... These include: (1) multiple independent submissions; (2) frequency or genotype data; (3) submitter confirmation; (4) ... an allele, a chromosome, a base position, a heterozygosity range, a build number, or a strain. In addition, many results can be ...
Frequencies of the two alleles vary widely among human populations. M+ and N+ RBCs are common (75% of population) and M+N+ ... The MN blood group in humans is under the control of a pair of co-dominant alleles, LM and LN. Most people in the Inuit ... with two alleles designated LM and LN. The blood type is due to a glycoprotein present on the surface of red blood cells, which ...
Population frequencies of common APOA5 alleles exhibit large interethnic differences. For example, there are about 15% of ... but the frequency could reach even between 40% and 50% among Asians. In contrast, the Trp19 allele is very rare in the Asian ... Here, one minor allele is associated with an approximate 0,25 mmol/L increase of plasma TG levels. A similar effect is ... Minor alleles (C1131 and Trp19) are primarily associated with the elevation of plasma triglyceride levels. The most extensive ...
Excluding this A30-cw5-B18 the A*3002 allele is most frequent in sub-Saharan Africa. The frequency of this allele is highest in ... 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 ... ISBN 0-19-262390-7. Middleton, D; Menchaca, L; Rood, H; Komerofsky, R (2003). "New allele frequency database: www. ...
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 ...
... 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 ] [ ...
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 ...
... the allele frequency spectrum, sometimes called the site frequency spectrum, is the distribution of the allele frequencies of a ... The joint allele frequency spectrum (JAFS) is the joint distribution of allele frequencies across two or more related ... The folded frequency spectrum stores the observed counts of the minor (most rare) allele frequencies. The folded spectrum can ... Each entry in the frequency spectrum records the total number of loci with the corresponding derived allele frequency. Loci ...
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 ...
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 ...
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. ...
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.. ...
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 ...
Estimation of Allele Frequencies From High-Coverage Genome-Sequencing Projects Message Subject (Your Name) has forwarded a page ... Estimation of Allele Frequencies From High-Coverage Genome-Sequencing Projects. Michael Lynch ... Estimation of Allele Frequencies From High-Coverage Genome-Sequencing Projects. Michael Lynch ... Estimation of Allele Frequencies From High-Coverage Genome-Sequencing Projects. Michael Lynch ...
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 - ...
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 ...
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
High frequency of intermediate alleles on huntington disease-associated haplotypes in British Columbias general population. ... Intermediate alleles (27-35 CAG, IAs) for Huntington disease (HD) usually do not confer the disease phenotype but are prone to ... Frequency estimates for IAs are limited and have largely been determined using clinical samples of HD or related disorders, ... This study aimed to establish the frequency of IAs in a sample of a British Columbias (B.C.) general population with no known ...
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* ...
... 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 ...
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 ...
It is also referred to as gene frequency. ... allele frequency is used to reflect the genetic diversity of a ... Allele Frequency Calculator. In population genetics, allele frequency is used to reflect the genetic diversity of a population ... p Allele Frequency qfreq = q Allele Frequency CH = Common Homozygotes H = Heterozygotes RH = Rare Homozygotes ... allele frequency is used to reflect the genetic diversity of a population species. It is also referred to as gene frequency. It ...
Eupedia Forum , Population Genetics , Medical & Psychological Genetics , HLA , New map of HLA-A1 allele frequency ... The allele could have been positively selected in Western Europe and the Maghreb if it conferred better protection against ... I have used the HLA allele frequencies database (http://www.allelefrequencies.net/) to make the map.. http://cdn.eupedia.com/ ... It is also found at high frequency in Mongolia (6 to 14.5%), but is otherwise very rare or absent from East Asian countries. ...
The present study investigated, for the first time, the frequency distribution of these three SNPs of TPMT, their alleles and ... The estimated genotype frequency for homozygous TPMT(*)1/(*)1 was 97.24%, for heterozygous TPMT(*)1/(*)2 and TPMT(*)1/(*)3B, ... The genotypes at the polymorphic loci were determined by allele-specific polymerase chain reaction, restriction fragment length ... 0.61% each, and for heterozygous TPMT(*)1/(*)3C, 1.53%. The frequency of heterozygous mutants in the studied Indian population ...
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 ...
  • The presence of cytochrome P450 (CYP) variant alleles may reduce the activation of the prodrug clopidogrel to its active state. (nih.gov)
  • There were no significant differences in the presence of the examined CYP3A4, CYP3A5, CYP2C9, or CYP2C19 variant alleles between the two groups. (nih.gov)
  • The present data indicate that patients currently receiving clopidogrel therapy who present with repeat ACS do not have higher frequency of the examined variant alleles compared to a control group. (nih.gov)
  • The results showed that CYP2A6 2, CYP2A6 3, CYP2D6 3, CYP2C19 3, and CYP3A4 17 variant alleles are virtually absent in Chileans. (uchile.cl)
  • 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 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)
  • In this table, a 1 indicates that the derived allele is observed at that site, while a 0 indicates the ancestral allele was observed. (wikipedia.org)
  • For example in human population genetic studies, the homologous chimpanzee reference sequence is typically used to estimate the ancestral allele. (wikipedia.org)
  • If you know which is the ancestral allele, you can calculate the delta DAF. (biostars.org)
  • We determined the prevalence of the drug-sensitive and drug-resistant alleles in patient samples analyzed in parallel by an allele-specific enzyme digestion (ASED) assay. (ajtmh.org)
  • In addition, based on the new data on the deficiency allele frequencies and prevalence for PiS and PiZ worldwide (de Serres 2002), we can conclude that AAT deficiency is a not a rare disease but is a disease that has been rarely diagnosed. (thefreedictionary.com)
  • 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)
  • 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)