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AllelesGenotypeGene FrequencyPolymorphism, GeneticPolymorphism, Single NucleotideMutationGenetic Predisposition to DiseasePhenotypeHaplotypesGenetic VariationHeterozygoteMolecular Sequence DataHomozygoteBase SequencePolymerase Chain ReactionChromosome MappingLinkage DisequilibriumMicrosatellite RepeatsGenetic MarkersCase-Control StudiesHLA-DRB1 ChainsCrosses, GeneticPolymorphism, Restriction Fragment LengthModels, GeneticGenetics, PopulationSequence Analysis, DNAAmino Acid SequencePedigreeGenetic LinkageGenetic Association StudiesAsian Continental Ancestry GroupExonsDNA Mutational AnalysisDNA PrimersHLA-DQ AntigensHLA-DR AntigensGenes, LethalSelection, GeneticGenetic LociGenes, DominantEuropean Continental Ancestry GroupHLA-B AntigensGenes, RecessiveApolipoprotein E4Suppression, GeneticPoint MutationDNARecombination, GeneticMinisatellite RepeatsGenetic Complementation TestHeterozygote DetectionGene DeletionMutation, MissensePromoter Regions, GeneticRisk FactorsQuantitative Trait LociGenome-Wide Association StudyHLA-DQ alpha-ChainsIntronsCloning, MolecularGenes, PlantSaccharomyces cerevisiaeEpistasis, GeneticDrosophila melanogasterGenetic TestingHLA AntigensApolipoproteins EGenes, FungalPhylogenyMutagenesisChinaEvolution, MolecularHLA-A AntigensAfrican Continental Ancestry GroupGenesSequence DeletionPolymorphism, Single-Stranded ConformationalDNA-Binding ProteinsTranscription FactorsDinucleotide RepeatsHLA-C AntigensMutagenesis, InsertionalCohort StudiesBlotting, SouthernGene DosageSpecies SpecificityRNA, MessengerGenotyping TechniquesZea maysSequence Homology, Amino AcidFungal ProteinsGenes, MHC Class IITrinucleotide RepeatsGenes, SuppressorDrosophila ProteinsFrameshift MutationSaccharomyces cerevisiae ProteinsDNA, PlantSequence AlignmentInheritance Patterns
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.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Gene Frequency: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding 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.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the 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.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.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.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.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.Homozygote: An individual in which both alleles at a given locus are identical.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.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.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.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).Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.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.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.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.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.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.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.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.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 Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.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.Asian Continental Ancestry Group: Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.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 Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.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-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.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.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.Selection, Genetic: Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.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.European Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Europe.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.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.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.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).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.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).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.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.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.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.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)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.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.Quantitative Trait Loci: Genetic loci associated with a QUANTITATIVE TRAIT.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.HLA-DQ alpha-Chains: Transmembrane proteins that form the alpha subunits of the HLA-DQ antigens.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.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.Genes, Plant: The functional hereditary units of PLANTS.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.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.Drosophila melanogaster: A species of fruit fly much used in genetics because of the large size of its chromosomes.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.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.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.Genes, Fungal: The functional hereditary units of FUNGI.Phylogeny: The relationships of groups of organisms as reflected by their genetic makeup.Mutagenesis: Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.China: A country spanning from central Asia to the Pacific Ocean.Evolution, Molecular: The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.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.African Continental Ancestry Group: Individuals whose ancestral origins are in the continent of Africa.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.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.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.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.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.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.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).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.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.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.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.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.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.Genotyping Techniques: Methods used to determine individuals' specific ALLELES or SNPS (single nucleotide polymorphisms).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.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.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.Trinucleotide Repeats: Microsatellite repeats consisting of three nucleotides dispersed in the euchromatic arms of chromosomes.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.Drosophila Proteins: Proteins that originate from insect species belonging to the genus DROSOPHILA. The proteins from the most intensely studied species of Drosophila, DROSOPHILA MELANOGASTER, are the subject of much interest in the area of MORPHOGENESIS and development.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.Saccharomyces cerevisiae Proteins: Proteins obtained from the species SACCHAROMYCES CEREVISIAE. The function of specific proteins from this organism are the subject of intense scientific interest and have been used to derive basic understanding of the functioning similar proteins in higher eukaryotes.DNA, Plant: Deoxyribonucleic acid that makes up the genetic material of plants.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.Inheritance Patterns: The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.

Standardized nomenclature for inbred strains of mice: sixth listing. (1/28798)

Rules for designating inbred strains of mice are presented, along with a list of strains with their origins and characteristics, a table of biochemical polymorphisms, and standard subline designations.  (+info)

Lack of genic similarity between two sibling species of drosophila as revealed by varied techniques. (2/28798)

Acrylamide gel electrophoresis was performed on the enzyme xanthine dehydrogenase in sixty isochromosomal lines of Drosophila persimilis from three geographic populations. Sequential electrophoretic analysis using varied gel concentrations and buffers revealed twenty-three alleles in this species where only five had been described previously. These new electrophoretic techniques also detected a profound increase in divergence of gene frequencies at this locus between D. persimilis and its sibling species D. pseudoobscura. The implications of these results for questions of speciation and the maintenance of genetic variability are discussed.  (+info)

Genetic heterogeneity within electrophoretic "alleles" of xanthine dehydrogenase in Drosophila pseudoobscura. (3/28798)

An experimental plan for an exhaustive determination of genic variation at structural gene loci is presented. In the initial steps of this program, 146 isochromosomal lines from 12 geographic populations of D. pseudoobscura were examined for allelic variation of xanthine dehydrogenase by the serial use of 4 different electrophoretic conditions and a head stability test. The 5 criteria revealed a total of 37 allelic classes out of the 146 genomes examined where only 6 had been previously revealed by the usual method of gel electrophoresis. This immense increase in genic variation also showed previously unsuspected population differences between the main part of the species distribution and the isolated population of Bogota population. The average heterozygosity at the Xdh locus is at least 72% in natural populations. This result, together with the very large number of alleles segregating and the pattern of allelic frequencies, has implications for theories of genetic polymorphism which are discussed.  (+info)

An overview of the evolution of overproduced esterases in the mosquito Culex pipiens. (4/28798)

Insecticide resistance genes have developed in a wide variety of insects in response to heavy chemical application. Few of these examples of adaptation in response to rapid environmental change have been studied both at the population level and at the gene level. One of these is the evolution of the overproduced esterases that are involved in resistance to organophosphate insecticides in the mosquito Culex pipiens. At the gene level, two genetic mechanisms are involved in esterase overproduction, namely gene amplification and gene regulation. At the population level, the co-occurrence of the same amplified allele in distinct geographic areas is best explained by the importance of passive transportation at the worldwide scale. The long-term monitoring of a population of mosquitoes in southern France has enabled a detailed study to be made of the evolution of resistance genes on a local scale, and has shown that a resistance gene with a lower cost has replaced a former resistance allele with a higher cost.  (+info)

Detailed methylation analysis of the glutathione S-transferase pi (GSTP1) gene in prostate cancer. (5/28798)

Glutathione-S-Transferases (GSTs) comprise a family of isoenzymes that provide protection to mammalian cells against electrophilic metabolites of carcinogens and reactive oxygen species. Previous studies have shown that the CpG-rich promoter region of the pi-class gene GSTP1 is methylated at single restriction sites in the majority of prostate cancers. In order to understand the nature of abnormal methylation of the GSTP1 gene in prostate cancer we undertook a detailed analysis of methylation at 131 CpG sites spanning the promoter and body of the gene. Our results show that DNA methylation is not confined to specific CpG sites in the promoter region of the GSTP1 gene but is extensive throughout the CpG island in prostate cancer cells. Furthermore we found that both alleles are abnormally methylated in this region. In normal prostate tissue, the entire CpG island was unmethylated, but extensive methylation was found outside the island in the body of the gene. Loss of GSTP1 expression correlated with DNA methylation of the CpG island in both prostate cancer cell lines and cancer tissues whereas methylation outside the CpG island in normal prostate tissue appeared to have no effect on gene expression.  (+info)

Identification of DNA polymorphisms associated with the V type alpha1-antitrypsin gene. (6/28798)

alpha1-Antitrypsin (alpha1-AT) is a highly polymorphic protein. The V allele of alpha1-AT has been shown to be associated with focal glomerulosclerosis (FGS) in Negroid and mixed race South African patients. To identify mutations and polymorphisms in the gene for the V allele of alpha1-AT in five South African patients with FGS nephrotic syndrome DNA sequence analysis and restriction fragment length polymorphisms of the coding exons were carried out. Four of the patients were heterozygous for the BstEII RFLP in exon III [M1(Val213)(Ala213)] and one patient was a M1(Ala213) homozygote. The mutation for the V allele was identified in exon II as Gly-148 (GGG)-->Arg (AGG) and in all patients was associated with a silent mutation at position 158 (AAC-->AAT). The patient who was homozygous for (Ala213) also had a silent mutation at position 256 in exon III (GAT-->GAC) which was not present in any of the other four patients. Although the V allele of alpha1-AT is not associated with severe plasma deficiency, it may be in linkage disequilibrium with other genes on chromosome 14 that predispose to FGS. Furthermore, the associated silent mutation at position 158 and the Ala213 polymorphism are of interest, as these could represent an evolutionary intermediate between the M1(Ala213) and M1(Val213) subtypes.  (+info)

The alphaE-catenin gene (CTNNA1) acts as an invasion-suppressor gene in human colon cancer cells. (7/28798)

The acquisition of invasiveness is a crucial step in the malignant progression of cancer. In cancers of the colon and of other organs the E-cadherin/catenin complex, which is implicated in homotypic cell-cell adhesion as well as in signal transduction, serves as a powerful inhibitor of invasion. We show here that one allele of the alphaE-catenin (CTNNA1) gene is mutated in the human colon cancer cell family HCT-8, which is identical to HCT-15, DLD-1 and HRT-18. Genetic instability, due to mutations in the HMSH6 (also called GTBP) mismatch repair gene, results in the spontaneous occurrence of invasive variants, all carrying either a mutation or exon skipping in the second alphaE-catenin allele. The alphaE-catenin gene is therefore, an invasion-suppressor gene in accordance with the two-hit model of Knudsen for tumour-suppressor genes.  (+info)

Correlation between the status of the p53 gene and survival in patients with stage I non-small cell lung carcinoma. (8/28798)

The association of p53 abnormalities with the prognosis of patients with non-small cell lung carcinoma (NSCLC) has been extensively investigated to date, however, this association is still controversial. Therefore, we investigated the prognostic significance of p53 mutations through exons 2 to 11 and p53 protein expression in 103 cases of stage I NSCLC. p53 mutations were detected in 49 of 103 (48%) tumors. Two separate mutations were detected in four tumors giving a total of 53 unique mutations in 49 tumors. Ten (19%) of mutations occurred outside exons 5-8. Positive immunohistochemical staining of p53 protein was detected in 41 of 103 (40%) tumors. The concordance rate between mutations and protein overexpression was only 69%. p53 mutations, but not expression, were significantly associated with a shortened survival of patients (P<0.001). Furthermore, we investigated the correlation between the types of p53 mutations and prognosis. p53 missense mutations rather than null mutations were associated with poor prognosis (P < 0.001 in missense mutations and P=0.243 in null mutations). These results indicated that p53 mutations, in particular missense mutations, rather than p53 expression could be a useful molecular marker for the prognosis of patients with surgically resected stage I NSCLC.  (+info)

Are minor alleles more likely to be risk alleles? | BMC Medical Genomics | Full TextAre minor alleles more likely to be risk alleles? | BMC Medical Genomics | Full Text
Genome-wide association studies (GWASs) have revealed relationships between over 57,000 genetic variants and diseases. However, unlike Mendelian diseases, complex diseases arise from the interplay of multiple genetic and environmental factors. Natural selection has led to a high tendency of risk alleles to be enriched in minor alleles in Mendelian diseases. Therefore, an allele that was previously advantageous or neutral may later become harmful, making it a risk allele. Using data in the NHGRI-EBI Catalog and the VARIMED database, we investigated whether (1) GWASs more easily detect risk alleles and (2) facilitate evolutionary insights by comparing risk allele frequencies of different diseases. We conducted computer simulations of P-values for association tests when major and minor alleles were risk alleles. We compared the expected proportion of SNVs whose risk alleles were minor alleles with the observed proportion. Our statistical results revealed that risk alleles were enriched in minor alleles,
A SYSTEMATIC REVIEW ON THE INFLUENCE OF HLA-B POLYMORPHISMS ON HIV-1 MOTHER-TO-CHILD-TRANSMISSION | The Brazilian Journal of...A SYSTEMATIC REVIEW ON THE INFLUENCE OF HLA-B POLYMORPHISMS ON HIV-1 MOTHER-TO-CHILD-TRANSMISSION | The Brazilian Journal of...
In this review we detected 16 alleles groups significantly associated with risk of HIV MTCT and/or with progression of disease in HIV-infected children (Table 1). HLA-B homozygosis was assumed as one allele group, HLA-B*57 allele was the most frequent allele showing a protective effect against the risk for HIV infection in children. This protective effect was detected in four different studies.10,11,21,22 Four alleles groups (HLA-B*27, B*57, B*58, B*81) were significantly associated with slower progression of HIV infection in children while six alleles groups (HLA-B*8, B*18, B*42, B*44, B*49, B*53) were associated with reduced risk of HIV-1 MTCT (Table 1). HLA-B*53:01 allele was associated with reduced risk of HIV-1 MTCT in the study by Winchester et al., but was also associated to rapid disease progression in the study by Gao et al.12,23. On the other hand, five alleles groups (HLA-B*18, B*35, B*45, B*58, B*homozygosis) were related to rapid HIV progression in children, and six alleles groups ...
Effect of human leukocyte antigen heterozygosity on infectious disease outcome: The need for allele-specific measures | BMC...Effect of human leukocyte antigen heterozygosity on infectious disease outcome: The need for allele-specific measures | BMC...
The foregoing examples show that the finding of population heterozygote advantage, as in the infectious disease studies cited, does not support an inference of allele-specific overdominance, the condition of primary interest as an immunological hypothesis and a mechanism for the maintenance of MHC diversity. Put another way, population heterozygote advantage may appear due to a combination of the two distinct mechanisms we defined in the Introduction: the protective or detrimental effects of particular alleles (R and S alleles in our model), and the effects of heterozygosity itself. The effects of R and S alleles appear as effects of heterozygosity vs. homozygosity because heterozygotes and homozygotes will in general carry different distributions of S and R alleles; thus, in an analysis that fails to condition on the alleles carried, heterozygosity is confounded with the alleles carried.. One advantage of correctly separating the effects of individual alleles from the effects of heterozygosity ...
Apoe epsilon4 allele frequency in patients with dementia in different ethnic and geographic groupsApoe epsilon4 allele frequency in patients with dementia in different ethnic and geographic groups
The APOE e4 allele polymorphism is associated with the increased risk of behavioral and psychological signs and symptoms of dementia. Treatment strategies based on APOE genotypes are being developed. In this study, we aimed to assess the frequencies of APOE4 alleles in patients with Alzheimers disease (AD) and vascular dementia (VaD) in different ethnic and geographic groups, and compare them with our results. Method: We determined APOE polymorphisms in patients with VaD, AD, and in controls. For comparison, the literature was searched systematically. Out of 80 papers, 42 papers were assessed for APOE genotype and allele frequencies from several regions of America, Asia and Europe. Results: There were marked variations in the APOE allele and genotype frequencies in all groups. The strength of association between AD and APOE e4 allele carrying was found significant [OR:2.905 (95%CI: 1.237-6.823)]. APOE e4 allele frequencies (%) showed gradual increase from controls to the AD patients (Control: ...
Identification of a novel HLA-Cw*05 allele, Cw*0503<...Identification of a novel HLA-Cw*05 allele, Cw*0503<...
TY - JOUR. T1 - Identification of a novel HLA-Cw*05 allele, Cw*0503. AU - Huang, L. Q.. AU - Boon, T.. AU - Van Pel, Aline. PY - 2000. Y1 - 2000. N2 - HLA-Cw*05 is one of the least polymorphic subgroups of HLA-C; so far only two alleles, namely Cw*0501 and Cw*0502, have been reported. We report here the identification of a third allele, Cw*0503, in a Caucasian individual. Cw*0503 is closely related to Cw*0501 with only six nucleotide substitutions clustering over a fragment of 48 nucleotides at the beginning of exon 4. All these six substitutions at the same positions have been found only in HLA-B*44 alleles, suggesting that Cw*0503 is a result of recombination between Cw*0501 and one of B*44 alleles.. AB - HLA-Cw*05 is one of the least polymorphic subgroups of HLA-C; so far only two alleles, namely Cw*0501 and Cw*0502, have been reported. We report here the identification of a third allele, Cw*0503, in a Caucasian individual. Cw*0503 is closely related to Cw*0501 with only six nucleotide ...
Multiple alleles legal definition of Multiple allelesMultiple alleles legal definition of Multiple alleles
Definition of Multiple alleles in the Legal Dictionary - by Free online English dictionary and encyclopedia. What is Multiple alleles? Meaning of Multiple alleles as a legal term. What does Multiple alleles mean in law?
Sup-1 x-ray induced alleleSup-1 x-ray induced allele
The wormbase gene report ( http://www.wormbase.org/db/gene/allele?name=e996;class=Allele ) suggests there are several other alleles for this gene with Jonathon Hodgkin as the contact see http://www.wormbase.org/db/misc/etree?name=CB;class=Laboratory Anthony m.larsen wrote: , I am working on sup-1 and was wondering if anyone has other alleles ,than e995. , In particular I would be interested in the x-ray induced e995xri. The , reference allele e995 is the only allele available from the CGC, so if anyone , would be able to provide me with additional sup-1 alleles I would be very , greatful. , , Thank you , , Morten K. Larsen , University of Southern Denmark , DK , m.larsen at bmb.sdu.dk , , --- ...
Genetic Susceptibility Associated with Rare HRAS1 Variable Number of Tandem Repeats Alleles in Spanish Non-Small Cell Lung...Genetic Susceptibility Associated with Rare HRAS1 Variable Number of Tandem Repeats Alleles in Spanish Non-Small Cell Lung...
PCR amplification of hypervariable loci, including VNTR, has increased the sensitivity for typing hypervariable regions of human DNA showing multiallelic variation. In previous studies, the Southern blot method was used to test the association of rare HRAS1 VNTR alleles and lung cancer. However, Southern blotting is limited in its ability to adequately resolve small differences in allele lengths, especially for the larger alleles and, therefore, may lead to allelic misclassification. Our data indicate that the presence of rare HRAS1 alleles significantly increases the risk of NSCLC, especially among male smokers (odds ratio = 2.13; 95% CI, 1.7-2.6; P = 0.007). Conversely, although Heighway et al. (25) found no significant differences in rare alleles among British lung cancer patients when compared with a cancer-free control group, they did find a significantly higher frequency of the largest common allele (a4) in NSCLC patients than in controls (29 versus 15%). This finding, however, was not ...
Genome‐wide allele‐ and strand‐specific expression profiling | Molecular Systems BiologyGenome‐wide allele‐ and strand‐specific expression profiling | Molecular Systems Biology
Accurate estimation of allele‐specific expression was achieved by using both specific and common probes, with the intensities of the latter reflecting the total expression of the two alleles (Figure 1B). One main challenge was accounting for off‐target effects. Part of contribution toward hybridization signal of allele‐specific probes comes from their cross‐hybridization with transcripts of the other allele (Figure 1B). Indeed, in most cases, allele‐specific probes have only one nucleotide mismatch with the other allele and show significant hybridization with it. Not accounting for this effect would lead to biased estimation of allele‐specific expression levels. This off‐target effect was accounted for by modeling the probe intensities as noisy observations of weighted sums of the two allelic levels (equation (1)). The weights represent the affinities of the probe with respect to each allele. They are equal for common probes and can differ for specific probes, none being a priori ...
Transmission of Haplotypes of Microsatellite Markers Rather Than Single Marker Alleles in the Mapping of a Putative Type 1...Transmission of Haplotypes of Microsatellite Markers Rather Than Single Marker Alleles in the Mapping of a Putative Type 1...
Allelic association methods based on increased transmission of marker alleles will have to be employed for the mapping of complex disease susceptibility genes. However, because the extent of association of single marker alleles with disease is a function of the relative frequency of the allele on disease-associated chromosomes versus non disease-predisposing chromosomes, the most associated marker allele in a region will not necessarily be closest to the disease locus. To overcome this problem we describe a haplotype-based approach developed for mapping of the putative type 1 diabetes susceptibility gene IDDM6. Ten microsatellite markers spanning a 550 kb segment of chromosome 18q21 in the putative IDDM6 region were genotyped in 1708 type 1 diabetic Caucasian families from seven countries. The most likely ancestral diabetogenic chromosome was reconstructed in a step-wise fashion by analysing linkage disequilibrium between a previously defined haplotype of three adjacent markers and the next ...
Allele - WikipediaAllele - Wikipedia
In many cases, genotypic interactions between the two alleles at a locus can be described as leading to dominant or recessive, according to which of the two homozygous phenotypes the heterozygote most resembles. Where the heterozygote is indistinguishable from one of the homozygotes, the allele expressed is the one that leads to the dominant phenotype.[6] The degree and pattern of dominance varies among loci. This type of interaction was first formally described by Gregor Mendel. However, many traits defy this simple categorization and the phenotypes are modeled by co-dominance and polygenic inheritance. The term "wild type" allele is sometimes used to describe an allele that is thought to contribute to the typical phenotypic character as seen in "wild" populations of organisms, such as fruit flies (Drosophila melanogaster). Such a "wild type" allele was historically regarded as leading to a dominant (overpowering - always expressed), common, and normal phenotype, in contrast to "mutant" alleles ...
wk2 - Application to Punnett Square IV Inheritance Patterns Allelic Interactions Name Description ratio*adds to*seen in Example...wk2 - Application to Punnett Square IV Inheritance Patterns Allelic Interactions Name Description ratio*adds to*seen in Example...
View Notes - wk2 from LS 4 at UCLA. Application to Punnett Square: IV. Inheritance Patterns Allelic Interactions: Name Description _________ ratio *adds to ____ *seen in ____ Example Genetic
Stepwise mutation model - WikipediaStepwise mutation model - Wikipedia
The stepwise mutation model (SMM) is a mathematical theory, developed by Motoo Kimura and Tomoko Ohta, that allows for investigation of the equilibrium distribution of allelic frequencies in a finite population where neutral alleles are produced in step-wise fashion. The original model assumes that if an allele has a mutation that causes it to change in state, mutations that occur in repetitive regions of the genome will increase or decrease by a single repeat unit at a fixed rate (i.e. by the addition or subtraction of one repeat unit per generation) and these changes in allele states are expressed by an integer (. . . A-1, A, A1, .. .). The model also assumes random mating and that all alleles are selectively equivalent for each locus. The SMM is distinguished from the Kimura-Crow model, also known as the infinite alleles model (IAM), in that as the population size increases to infinity, while the product of the Ne (effective population size) and the mutation rate is fixed, the mean number of ...
A robust approach to identifying tissue-specific gene expression regulatory variants using personalized human induced...A robust approach to identifying tissue-specific gene expression regulatory variants using personalized human induced...
Normal variation in gene expression due to regulatory polymorphisms is often masked by biological and experimental noise. In addition, some regulatory polymorphisms may become apparent only in specific tissues. We derived human induced pluripotent stem (iPS) cells from adult skin primary fibroblasts and attempted to detect tissue-specific cis-regulatory variants using in vitro cell differentiation. We used padlock probes and high-throughput sequencing for digital RNA allelotyping and measured allele-specific gene expression in primary fibroblasts, lymphoblastoid cells, iPS cells, and their differentiated derivatives. We show that allele-specific expression is both cell type and genotype-dependent, but the majority of detectable allele-specific expression loci remains consistent despite large changes in the cell type or the experimental condition following iPS reprogramming, except on the X-chromosome. We show that our approach to mapping cis-regulatory variants reduces in vitro experimental ...
Changes in impact of HLA class I allele expression on HIV-1 plasma virus loads at a population level over time - Koga - 2010 -...Changes in impact of HLA class I allele expression on HIV-1 plasma virus loads at a population level over time - Koga - 2010 -...
Kawashima Y., Pfafferott K., Frater J., Matthews P., Payne R., Addo M., Gatanaga H., Fujiwara M., Hachiya A., Koizumi H., Kuse N., Oka S., Duda A., Prendergast A., Crawford H., Leslie A., Brumme Z., Brumme C., Allen T., Brander C., Kaslow R., Tang J., Hunter E., Allen S., Mulenga J., Branch S., Roach T., John M., Mallal S., Ogwu A., Shapiro R., Prado J.G., Fidler S., Weber J., Pybus O.G., Klenerman P., Ndungu T., Phillips R., Heckerman D., Harrigan P.R., Walker B.D., Takiguchi M., Goulder P. (2009) Adaptation of HIV-1 to human leukocyte antigen class I. Nature ...
Bio::Variation::Allele - search.cpan.orgBio::Variation::Allele - search.cpan.org
List of alleles describe known sequence alternatives in a variable region. Alleles are contained in Bio::Variation::VariantI complying objects. See Bio::Variation::VariantI for details.. Bio::Varation::Alleles are PrimarySeqI complying objects which can contain database cross references as specified in Bio::DBLinkContainerI interface, too.. A lot of the complexity with dealing with Allele objects are caused by null alleles; Allele objects that have zero length sequence string.. In addition describing the allele by its sequence , it possible to give describe repeat structure within the sequence. This done using methods repeat_unit (e.g. ca) and repeat_count (e.g. 7).. ...
Genome-wide allele frequenciesGenome-wide allele frequencies
function manually one at a time. However, this approach takes too much time to compute allele frequencies for 5,000 SNPs. Recall that allele frequency of A is given by \[ f(A) = p = \frac{2 \times (\text{no. of } AA \text{ individuals}) + 1 \times (\text{no. of } Aa \text{ individuals})}{2 \times \text{total no. of individuals}}. \] We can rewrite this equation into \[ f(A) = p = \frac{(\text{no. of } A \text{ allele in the population})}{2 \times \text{total no. of individuals}}. \] This suggests that all we need is the number of \(A\) allele or reference allele \(a\) for each SNP. The ...
Welcome to CDC stacks | Single nucleotide variants in metastasis-related genes are associated with breast cancer risk, by lymph...Welcome to CDC stacks | Single nucleotide variants in metastasis-related genes are associated with breast cancer risk, by lymph...
Although single-SNP associations were not significant at pFDR,0.05, several genes were significant in the ARTP analyses. In AA women, significant ARTP gene-level associations included CDH1 with LN+ (pARTP=0.10; multi-allelic OR=1.13, 95% CI 1.07-1.19, pFDR=0.0003) and SIPA1 with ER− breast cancer (pARTP=0.10; multi-allelic OR=1.16, 95% CI 1.02-1.31, pFDR=0.03). In EA women, MTA2 was associated with overall breast cancer risk (pARTP=0.004), regardless of ER status, and with LN− disease (pARTP=0.01). Also significant were SATB1 in ER− (pARTP=0.03; multi-allelic OR=1.12, 95% CI 1.05-1.20, pFDR=0.003) and KISS1 in LN− (pARTP=0.10; multi-allelic OR=1.18, 95% CI 1.08-1.29, pFDR=0.002) analyses. Among LN+ cases, significant ARTP associations were observed for SNAI1, CD82, NME1, and CTNNB1 (multi-allelic OR=1.09, 95% CI 1.04-1.14, pFDR=0.001 ...
Plus itPlus it
4586 A number of studies have shown that HLA-DR, DQ and DP alleles are associated with an increased risk of paediatric acute lymphoblastic leukaemia (ALL), but the significance of these multiple HLA locus/allele associations for the aetiology of childhood ALL remains uncertain. One possibility is that they denote differences in immune responsiveness to a causative infection(s), mediated by the differential antigenic peptide-binding efficiency of HLA class II alleles. We previously reported that B cell precursor ALL [BCP] was associated with HLA-DPB1*0201 and related alleles with glutamic acid (E) at position DPβ169 in the P4 peptide binding pocket (PBP). However, recent studies suggest that DPB1 alleles can be clustered into a small number of functional supertypes based on the shared peptide binding characteristics of several PBP. To determine whether these influence the risk of BCP ALL, we clustered DPB1 alleles into 3 pairs of supertypes, defined by di-allelic polymorphisms at DPβ184, 69 and ...
Hardy-Weinberg EquilibriumHardy-Weinberg Equilibrium
The Hardy-Weinberg Law states: In a large, random-mating population that is not affected by the evolutionary processes of mutation, migration, or selection, both the allele frequencies and the genotype frequencies are constant from generation to generation. Furthermore, the genotype frequencies are related to the allele frequencies by the square expansion of those allele frequencies. In other words, the Hardy-Weinberg Law states that under a restrictive set of assumptions, it is possible to calculate the expected frequencies of genotypes in a population if the frequency of the different alleles in a population is known.. The genotype frequencies are calculated using the square expansion of the allele frequencies. To illustrate this concept, assume that at some locus, A, you have two alleles, call them A1, and A2. Assume that the frequency of allele A1 is p and the frequency of allele A2 is q. We can write this as:. f(A1) = p f(A2) = q. Under Hardy-Weinberg conditions, the expected genotypic ...
Recessive allele - ConservapediaRecessive allele - Conservapedia
A recessive allele is an allele that will not determine the phenotype unless the genotype is homozygous with that allele.[1] Examples of recessive alleles include the allele for green in the pea Pisum sativum (the subject of Gregor Mendels heredity experiments). In humans, a variety of inherited diseases are recessive, such as Cystic fibrosis and Tay-Sachs. ...
Requirements for Driving Antipathogen Effector Genes into Populations of Disease Vectors by Homing | GeneticsRequirements for Driving Antipathogen Effector Genes into Populations of Disease Vectors by Homing | Genetics
Figure 6 Five alleles in Model II. w, wild-type allele with target genes containing sequence recognized by the nuclease. n, allele with nuclease gene inserted in the middle of the target sequence, protecting the chromosome from being cut but also disrupting the target gene. e, effector gene linked to a target gene in which the recognition sequence has been changed so it is no longer recognized by the nuclease. d, disrupted target gene formed by non-HR of w alleles or by loss of nuclease from n alleles. r, functional target gene that is also resistant to cleavage due to not having the target sequence; can be formed by non-HR of w alleles or by loss of the effector gene of e alleles. Note that other alleles are possible, such as effector with disrupted target gene (e.g., formed by spontaneous mutation of e alleles), or effector with functional target gene with target sequence (e.g., formed by recombination between w and e alleles). These are expected to be rare because they are formed rarely and ...
Type 1 diabetes susceptibility determined by HLA alleles and CTLA-4 and insulin genes polymorphisms in BraziliansType 1 diabetes susceptibility determined by HLA alleles and CTLA-4 and insulin genes polymorphisms in Brazilians
FERREIRA, Alessandro Clayton Souza et al. Type 1 diabetes susceptibility determined by HLA alleles and CTLA-4 and insulin genes polymorphisms in Brazilians. Arq Bras Endocrinol Metab [online]. 2009, vol.53, n.3, pp.368-373. ISSN 1677-9487. http://dx.doi.org/10.1590/S0004-27302009000300012.. INTRODUCTION:Type 1A diabetes mellitus (T1ADM) is a multifactorial disease in which genetic and environmental aspects are important to its development. The association of genetic variations with disease has been demonstrated in several studies; however, the role of some gene loci has not yet been fully elucidated. OBJECTIVE:To compare the frequency of HLA alleles and polymorphism in CTLA-4 and insulin genes in Brazilians with T1ADM and individuals without the disease, as well as to identify genetic markers that are able to discriminate between diabetic and non-diabetic individuals. METHODS: The presence of HLA DQB1, DQA1 and DRB1 alleles, as well as the -2221 MspI polymorphism in the insulin gene and 49 A/G ...
League of Reason • View topic - Prove an interpretation?League of Reason • View topic - Prove an interpretation?
a , Incomplete lineage sorting can produce discrepancy between the phylogenetic tree for a specific gene or a genomic segment and the overall species-level phylogenetic tree. If an ancestral species is polymorphic (in this case, it is segregating Alleles A and B) and divides into two descendent lineages, then both alleles can be retained in the two daughter lineages. If one of these lineages divides again relatively soon, then all three species lineages may carry both alleles. Over time, each lineage will lose one or the other allele owing to genetic drift or selection. In this case, Species 1 retains Allele A and Species 3 retains Allele B. For this genomic segment, Species 2 will seem to be more closely related to either Species 1 or Species 3 depending on whether it retains Allele A or Allele B. Retention of Allele B would mean that this genomic segment matches the overall species-level phylogenetic tree, but retention of Allele A would lead to discrepancy. Analyses of whole-genome sequences ...
Evolutionary origins of retroposon lineages of Mhc class II Ab alleles<...Evolutionary origins of retroposon lineages of Mhc class II Ab alleles<...
TY - JOUR. T1 - Evolutionary origins of retroposon lineages of Mhc class II Ab alleles. AU - Lu, Cheng-Chan. AU - Ye, Ying. AU - She, Jin Xiong. AU - Bonhomme, Francois. AU - Wakeland, Edward K.. PY - 1996/5/1. Y1 - 1996/5/1. N2 - Major histocompatibility complex (Mhc) class II Ab genes have evolved into three distinct lineages. While lineage 2 alleles differ from lineage 1 alleles by the insertion of a retroposon in intron 2, the basis for the extremely large intron 2 in lineage 3 alleles has heretofore been undetermined. In this report, we demonstrate by nucleotide sequencing that the genomic sequences of prototypic alleles from all three lineages diverge significantly and that lineage 3 is derived from lineage 2 by two insertional events in intron 2. One insert, composed of a member of B1 short interspersed repetitive elements (SINEs), occurs 508 base pairs (bp) 3 of exon 2, and the other, 1141 bp 3 of exon 2 within the retroposon that distinguishes lineage 2 from lineage 1. To assess the ...
Allele Frequency CommunityAllele Frequency Community
How common is an observed genetic allele in the population?. Simple question, but no simple answers. This is the challenge for all clinical geneticists and translational researchers alike. Current human allele frequency information is simply inadequate for accurate clinical interpretation sequence based tests and rare disease causal variant identification.. What if allele frequencies were readily available for every position in the human genome?. This is a community-based effort to address this need. Registered community members have access to anonymous, pooled allele frequencies computed from across the whole community. All community data is safe, secure and anonymous.. ...
Allele-Specific Regulation of Matrix Metalloproteinase-7 Promoter Activity Is Associated With Coronary Artery Luminal...Allele-Specific Regulation of Matrix Metalloproteinase-7 Promoter Activity Is Associated With Coronary Artery Luminal...
In the present study, we identified and characterized 2 common polymorphisms in the promoter region of the MMP-7 gene that are functional in vitro and seem to influence coronary arterial dimensions in a preliminary study of hypercholesterolemic patients with manifest CAD. Hypercholesterolemic patients carrying the G allele at position −181 had smaller reference luminal diameters before PTCA than did patients homozygous for the A allele. Furthermore, carriers of the T allele at position −153 had smaller reference diameters before PTCA than did patients homozygous for the C allele. In vitro in the human monocyte/macrophage cell line U937, the −81 A/G and the −153 C/T polymorphisms influenced the binding of nuclear proteins. Also, basal promoter activity was higher in promoter constructs harboring the combination of the 2 rare alleles in transient transfection studies.. The finding that the G allele of the −181 A/G and the T allele of the −153 T/C polymorphisms, both of which are ...
Genetic polymorphism within HLA-A*02: significant allelic variation revealed in different populations. - ImmunologyGenetic polymorphism within HLA-A*02: significant allelic variation revealed in different populations. - Immunology
HLA-A2 is present at high frequency in most populations, as identified by serological and biochemical means. The value of these methods is limited by their failure to discriminate between the products of the 14 known allelic HLA-A*02 variants. The great majority of genetic polymorphism which defines the allelic variants is found in exons 2 and 3 of the A*02 genes. These exons encode the alpha-1 and alpha-2 domains of the HLA Class I molecules, and variation within the genes may influence the peptide binding specificity of the gene products of each allele. Failure to accurately assign the allelic types has implications in transplantation, in interpretation of cellular assays and in the understanding of HLA disease associations. We have developed a method for determining the 14 known alleles of HLA-A*02 by use of ARMS-PCR to determine the degree of variation of HLA-A*02 alleles in 3 different population groups. Considerable variation was found in the relative frequencies of particular A*02 alleles between
Haplotypes: the joint distribution of alleles at linked loci. - Lancaster EPrintsHaplotypes: the joint distribution of alleles at linked loci. - Lancaster EPrints
We prove a result concerning the joint distribution of alleles at linked loci on a chromosome drawn from the population at stationarity. For a neutral locus, the allele is a draw from the stationary distribution of the mutation process. Furthermore, this allele is independent of the alleles at different loci on any chromosomes in the population.. ...
The immune response to HIV: The interplay between virus and host genetic factors - Murdoch Research RepositoryThe immune response to HIV: The interplay between virus and host genetic factors - Murdoch Research Repository
The immune response to HIV infection is complex involving multiple interactive pathways and components. These pathways are influenced by both virus and host genetic factors, which determine disease progression, complications and response to treatment. HIV virus evades the antigen specific T-cell immunity by undergoing mutations throughout its entire genome, which at a population level are both positively and negatively associated with particular HLA alleles. The extent to which this adaptation occurs influences viral load. These results provide evidence that host HLA is an important factor imprinting on viral evolution. Host genetic factors are also important predictors of clinical course and complications in established HIV infection. In cross-sectional and longitudinal studies of the WA HIV cohort, we have shown certain HLA and chemokine receptor alleles influence viral load set point. In addition, the presence of certain NK cell KIR genes influence outcome, particularly, in relation to rate ...
أجريسأجريس
With the using modern molecular-genetic methods for the study it was shown that the allele C and genotypes GC and CC of the polymorphic variant G-405C of VEGF gene, allele A and genotypes GA and AA of the polymorphic region G-1154A of VEGF gene, allele C and genotypes ТС and СС of polymorphism T-604C of KDR gene as well as allele A and genotypes СА and GА of polymorphism G-735A of Ang2 gene pr ... ...
Salmon Run: February 2015Salmon Run: February 2015
from operator import itemgetter from random import random import math import matplotlib.pyplot as plt import nltk import numpy as np def person(): alleles = [] for allele in [a,b,c]: pairs = [] for pair in range(2): pairs.append(allele if random() ,= 0.5 else allele.upper()) alleles.append(.join(sorted(pairs))) return alleles def shuffle_and_choose(counts): shuffled = [x[0] for x in sorted(enumerate([random() for i in range(len(counts))]), key=itemgetter(1))] return counts[shuffled[0]] def compute_mating_likelihood(left, right): left_dominant = get_num_dominant(left) right_dominant = get_num_dominant(right) diff = abs(left_dominant - right_dominant) return math.exp(-diff) def mate(left, right): mated_alleles = [] for i in range(3): child_pairs = [] for lp in left[i]: for rp in right[i]: child_pairs.append(.join(sorted([lp, rp]))) mated_alleles.append(shuffle_and_choose(child_pairs)) return mated_alleles def get_num_dominant(allele): return len([c for c in .join(allele) if c == ...
Fixed allele | Article about fixed allele by The Free DictionaryFixed allele | Article about fixed allele by The Free Dictionary
Looking for fixed allele? Find out information about fixed allele. An allele that is homozygous in all members of a population Explanation of fixed allele
diabetesdiabetes
Figure 1. The table should be interpreted as follows: For row 1, the locus is DQ, and the allele is 201. This particular allele codes for alanine at postion 57 of the Beta chain of the MHC II molecule, making the patient susceptible to IDDM. For row 2, allele 302 also codes for alanine and elicits the same result. For row 3, allele 303 in the same locus codes for aspartic acid, conferring immunity on the host, etc (Tisch 1996). It is believed that MHC alleles susceptible to autoantigen specific T cells, particularly Th1 cells specific for B cell islet antigens, mediate IDDM susceptibility. These susceptible cells bind antigens that elicit a primarily Th1 cell response. The resistant alleles, like those of the DR isotype expressing aspartic acid, elicit a primarily Th2 cell response. Studies support this hypothesis, as nonobese diabetic mice (because human testing would be unethical, animal models are used to better understand IDDM. The most common model uses mice infected with IDDM, also known ...
Triablogue: Venemas Genesis and the GenomeTriablogue: Venema's Genesis and the Genome
For example, lets take an extremely simple case. Say the frequency of an allele in a population is 0.15 or 15%, while the frequency of another allele is 0.20 or 20%. Based on random assortment or chance, one would predict the two alleles would be found together with a frequency of 0.15 x 0.20 = 0.03 or 3% of the time. However, say in reality the two alleles are found together 15% of the time in the population. So, since 15% is 5.0 times greater than 3%, the two alleles are found together 5.0 times more frequently than expected or predicted by their individual allele frequencies i.e. random assortment or chance. Thus, this disequilibrium suggests linkage of the two alleles on a specific locus or loci which is on, say, chromosome 7 ...
Genetic diversity on squirrels - Biology-OnlineGenetic diversity on squirrels - Biology-Online
Try again. Im assuming the data in the table is the allele frequency for the three alleles of locus 1 and that each column is one taxon-and here I reveal my ignorance of genetic terms because I dont know for certain what a taxon is and I havent bothered to look up the definition. For the other 10 loci there may be a fewer or greater number of alleles per locus. If the tabulated data are the allele frequencies, then the answer to 3) is just read off the table multiplied by 100 to express the proportion as a percentage. For 1) you should be able to caluclate %P for each column (taxon?) as ((# loci with multiple alleles)/11)X100. For the number of alleles/locus wouldnt that just be (total # of alleles)/11 calculated for each column? The allele frequencies should just be read off the table, I think. Then the %heterozygosity for each locus can be calculated per taxon with Hardy-Weinberg, as above, and the average heterozygosity would be the average of the %heterozygosity per locus calculated for ...
Plus itPlus it
In contrast, monoallelic transcription was restricted to exon 1′ in tumor 26 (Fig. 4 ⇓ , Lane 7). The two alleles were present in approximately the same copy numbers, and transcripts associated with exons Ha, E, and 1 were symmetrically expressed from the two alleles (Fig. 4 ⇓ , Lanes 7-10). For comparison, a sample demonstrating equal copy numbers for both the N and n alleles and symmetrical expression from each of the promoters is shown (T3; Fig. 4 ⇓ , Lanes 11-15).. In a panel of 14 ER-negative tumors, 8 were heterozygous; of these, 5 demonstrated evidence of amplification of one allele. In two samples, the N allele was amplified, whereas in three samples, the n allele was amplified (data not shown), suggesting that ER expression was extinguished after gene amplification had occurred. As expected, when samples were analyzed for allele-specific transcription, no conclusion could be drawn because only low levels of cDNA and, therefore, mRNA were detected.. The observed monoallelic ...
Dataset containing all HLA class I allelesDataset containing all HLA class I alleles
I am running an experiment in which I need to sample all six HLA class I alleles (HLA-A, HLA-B, HLA-C) repeatedly. Is there a dataset online that contains this information? I found this website (http://www.allelefrequencies.net/) but I cannot figure out how to get the data from it in the format that I want. Any help is appreciated. Thank you. EDIT: Sorry, I think the question was a little unclear. What I want to do is have a dataset containing a set of patients, and all 6 of their HLA alleles. Is there such a dataset available somewhere? ...
Hitchhikers Guide to the Galaxy on GenotypeHitchhiker's Guide to the Galaxy on Genotype
The distinction between genotype and phenotype is commonly experienced when studying family patterns for certain hereditary diseases or conditions, for example, hemophilia. Humans and most animals are diploid; thus there are two alleles for any given gene. These alleles can be the same (homozygous) or different (heterozygous), depending on the individual (see zygote). With a dominant allele, the offspring is guaranteed to inherit the trait in question irrespective of the second allele.. In the case of an albino with a recessive allele (aa), the phenotype depends upon the other allele (Aa, aA, aa or AA). An affected person mating with a heterozygous individual (Aa or aA, also carrier) there is a 50-50 chance the offspring will be albinos phenotype. If a heterozygote mates with another heterozygote, there is 75% chance passing the gene on and only a 25% chance that the gene will be displayed. A homozygous dominant (AA) individual has a normal phenotype and no risk of abnormal offspring. A ...
genetics - Is bi-allelic gene expression random? - Biology Stack Exchangegenetics - Is bi-allelic gene expression random? - Biology Stack Exchange
Supposing we have the genotypes "Aa", "AA", and "aa"... which are not mono-allelic (not imprinted and not X-inactivated). Does the dominance of the "A" allele over "a" allele affect which gene is transcribed, or are both alleles transcribed and the allelic dominance only determines the observed phenotype? Im guessing its the latter, but that makes me confused as to what the concept of allelic dominance would mean for mono-allelic expression, where only one allele is always expressed and observed. ...
Biology-Online • View topic - cell specific markersBiology-Online • View topic - cell specific markers
The majority of the population specific SNPs had a rather low frequency for the minor allele of less than 20%, but some SNPs with higher frequencies were also identified. 14 SNPs had a minor allele frequency of 19% and less, while only 7 SNPs had a minor allele frequency of 20% and higher. For SNPs with minor alleles in 2 populations, the higher minor frequency value was chosen for this diagram. Some caution should be applied not to overestimate or interpolate our results. Both datasets as well as the work of Stephens et al. (2001) are based on a limited number of individuals for each population group . Hence, alleles with a very low frequency in any one population may have been missed. Therefore it is possible and likely that some of the alleles that were not identified in one population group may be present at low frequencies in these groups, so that many of the SNPs that were included in our analysis as they showed a 0% frequency for the minor allele would have to be excluded as their real ...
The Renaissance Biologist: June 2008The Renaissance Biologist: June 2008
Each human has two copies of each gene or a form (allele) thereof, one from each parent. One form (allele) of a given gene may be dominant and, if it is, the other form may be recessive - i.e. it can "hide" or not express itself if a dominant allele of the same gene is present. When a disease is termed "genetic recessive," it only manifests itself if an individual has two copies of the recessive, disease-causing allele. If an individual has one copy of the recessive allele and one copy of the dominant allele, s/he is termed a "carrier" - the disease itself does not show up, but if his or her spouse also has one copy of the recessive allele, their children have a 25% chance of receiving two recessive copies, developing the disease. Tay-Sachs is genetic recessive and kills by age six ...
THU0108 Associations Between TRAF1-C5 Gene Polymorphisms and Rheumatoid Arthritis: A Meta-Analysis | Annals of the Rheumatic...THU0108 Associations Between TRAF1-C5 Gene Polymorphisms and Rheumatoid Arthritis: A Meta-Analysis | Annals of the Rheumatic...
Results A total of 24 comparative studies were included in this meta-analysis, including 22,682 patients with RA and 23,493 controls. The meta-analysis showed an association between the second allele of rs10818488 and RA in all study subjects (OR 1.170, 95% CI 1.082-1.266, p = 8.2 x 10-6). Analysis after stratification by population indicated that the second allele of rs10818488 were associated with RA in Europeans, but not in Asians (OR 1.229, 95% CI 1.094-1.381, p = 0.001; OR 1.060, 95% CI 0.930-1.335, p = 0.092). The meta-analysis also indicated an association between the second allele of rs3761847 and RA in all study subjects (OR 1.098, 95% CI 1.019-1.184, p = 0.015). The second allele of rs3761847 was associated with RA in Europeans, but not in Asians (OR 1.156, 95% CI 1.006-1.327, p = 0.041; OR 1.049, 95% CI 0.952-1.156, p = 0.333). The meta-analysis revealed an association between the second allele of the rs2900180 polymorphism and the risk of developing RA in all study subjects and ...
Download Free Biology Books: Gene Mapping, Discovery, And Expression: Methods And Protocols (Methods in Molecular Biology, Vol...Download Free Biology Books: Gene Mapping, Discovery, And Expression: Methods And Protocols (Methods in Molecular Biology, Vol...
A collection of cutting-edge computational tools and experimental techniques to study how genes are regulated, and to reconstruct the regulatory networks through which various cell-types are produced. On the computational side, web-based technologies to localize genes, to access and retrieve data from microarray databases, to conduct comparative genomics, and to discover the potential "codes" in genomic DNA that may control the expression of protein-coding genes. Detailed experimental techniques described include methods for studying chromatin structure and allele-specific gene expression, methods for high-throughput analysis to characterize the transcription factor binding elements, and methods for isolating and identifying proteins that interact with DNA. The protocols follow the successful Methods in Molecular Biologyâ„¢ series format, each offering step-by-step instructions, an introduction outlining the principles behind the technique, lists of the necessary equipment and reagents, and ...
Acrônimos com ALLELEAcrônimos com ALLELE
... As definições de siglas Allele. As definições de acrónimo Allele. Sigla Allele significa para. Além de encontrar siglas. Encontre o que significam as siglas!
The delta32 allele distribution of the CCR5 gene and its relat...The delta32 allele distribution of the CCR5 gene and its relat...
The delta32 allele distribution of the CCR5 gene and its relationship with certain cancers in a Turkish population.: The frequency of the delta32 allele detecte
What is the phenotype of TT in the genotype of a plant, where T stands for tall while the recessive allele stands for short? |...What is the phenotype of TT in the genotype of a plant, where T stands for tall while the recessive allele stands for short? |...
A plant whose genotype is represented with the alleles TT has the phenotype of a tall plant. Since T represents a tall plant and it is the only type of allele present in the plants genotype, the...
Variation and Evolution - Revision Cards in A Level and IB BiologyVariation and Evolution - Revision Cards in A Level and IB Biology
A mathematical equation that can be used to calculate the frequencies of alleles.. It states that in large, randomly mating population, on absences of migration, mutation and selection, the gene pool remains constant. The proportion of dominant and recessive alleles of a particular gene remains ththe same.. it can use the frequency of one allele to predict expected proportions of the genotype in the population. It demonstrates the large amount of recessive alleles in heterozygotes, who are the reservoir of genetic variability.. P^(2) + 2pq+ q^(2)= 1. P is frequency of dominant allele, q is frequency of recessive allele. P + q = q, but the next generation:. PP = p^(2), Pq= 2pq, pp= q^(2). ...
Study GuideStudy Guide
Correct Response: B. This question requires examinees to demonstrate an understanding of the principles of Mendelian genetics and inheritance and the application of those principles to genotype and phenotype variation in plants. The parent plants in this cross are heterozygous for two traits, which means they each contain a dominant allele and a recessive allele for pod color (Gg) and a dominant allele and a recessive allele for seed shape (Rr), with G and R representing the dominant alleles of each gene. A cross between these two plants can be represented as GgRr × GgRr. According to the principle of independent assortment, each parent plant will produce four types of gametes: GR, Gr, gR, and gr. A Punnett square can be used to determine the number and type of genotypes produced by this cross. When a 4 × 4 Punnett square is constructed by placing one set of gametes on the top of the square and the other set of gametes along the side of the square, the results show a total of 16 possible ...
Difference between revisions of Revoluta - ComaiwikiDifference between revisions of 'Revoluta' - Comaiwiki
The Comai laboratory does not work any longer on the REVOLUTA gene. Following our publication in Development we are sometime asked for alleles. The rev-1 allele is available from TAIR. The other alleles described in the paper are no longer available in my laboratory. We distributed seed while available, but the most of these seem to have gone to the great fields in the sky. While still in Seattle (around 2005) we searched the TILLING collection of STP for additional alleles. We collected and grew 28 new alleles, of which 2 showed strong phenotypes. ...
OrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesDisciplines and OccupationsTechnology, Industry, AgricultureInformation ScienceNamed GroupsHealth CareGeographicals
AllelesGenotypeGene FrequencyPolymorphism, GeneticPolymorphism, Single NucleotideMutationGenetic Predisposition to DiseasePhenotypeHaplotypesGenetic VariationHeterozygoteMolecular Sequence DataHomozygoteBase SequencePolymerase Chain ReactionChromosome MappingLinkage DisequilibriumMicrosatellite RepeatsGenetic MarkersCase-Control StudiesHLA-DRB1 ChainsCrosses, GeneticPolymorphism, Restriction Fragment LengthModels, GeneticGenetics, PopulationSequence Analysis, DNAAmino Acid SequencePedigreeGenetic LinkageGenetic Association StudiesAsian Continental Ancestry GroupExonsDNA Mutational AnalysisDNA PrimersHLA-DQ AntigensHLA-DR AntigensGenes, LethalSelection, GeneticGenetic LociGenes, DominantEuropean Continental Ancestry GroupHLA-B AntigensGenes, RecessiveApolipoprotein E4Suppression, GeneticPoint MutationDNARecombination, GeneticMinisatellite RepeatsGenetic Complementation TestHeterozygote DetectionGene DeletionMutation, MissensePromoter Regions, GeneticRisk FactorsQuantitative Trait LociGenome-Wide Association StudyHLA-DQ alpha-ChainsIntronsCloning, MolecularGenes, PlantSaccharomyces cerevisiaeEpistasis, GeneticDrosophila melanogasterGenetic TestingHLA AntigensApolipoproteins EGenes, FungalPhylogenyMutagenesisChinaEvolution, MolecularHLA-A AntigensAfrican Continental Ancestry GroupGenesSequence DeletionPolymorphism, Single-Stranded ConformationalDNA-Binding ProteinsTranscription FactorsDinucleotide RepeatsHLA-C AntigensMutagenesis, InsertionalCohort StudiesBlotting, SouthernGene DosageSpecies SpecificityRNA, MessengerGenotyping TechniquesZea maysSequence Homology, Amino AcidFungal ProteinsGenes, MHC Class IITrinucleotide RepeatsGenes, SuppressorDrosophila ProteinsFrameshift MutationSaccharomyces cerevisiae ProteinsDNA, PlantSequence AlignmentInheritance Patterns
Phenotypic traitPhenotypic trait
Alleles can be significantly different and produce different product RNAs. Combinations of different alleles thus go on to ... Multiple alleles refers to the situation when there are more than 2 common alleles of a particular gene. Blood groups in humans ... and multiple alleles. Incomplete dominance is the condition in which neither allele dominates the other in one heterozygote. ... The ABO blood group proteins are important in determining blood type in humans, and this is determined by different alleles of ...
ABO (gene)ABO (gene)
Other minor alleles have been found for this gene. There are six common alleles in individuals of European descent. Nearly ... The ABO locus encodes three alleles. The A allele produces α-1,3-N-acetylgalactosamine transferase (A-transferase), which ... Many rare variants of these alleles have been found in human populations around the world. In human cells, the ABO alleles and ... The O allele lacks both enzymatic activities because of the frame shift caused by a deletion of guanine-258 in the gene which ...
Cis ABCis AB
... one allele is AB and other is O When one parent carries a Cis AB allele, the other allele can be any of O, A or B and the ... The second allele is O: children are either AB or O Second allele is A: Children are either AB or A Second allele is B: ... A novel cis AB allele derived from a B allele through a single point mutation. Roubinet F1, Janvier D, Blancher A. Rev Fr ... Other parent is AO and second allele is O: The children are either AB or A or O Other parent is AA and the second allele is O: ...
Introduction to geneticsIntroduction to genetics
If one allele dominates the instructions from another, it is called the dominant allele, and the allele that is overridden is ... In this example you can call the allele for brown "B" and the allele for red "b". (It is normal to write dominant alleles with ... The effects of this mixing depend on the types (the alleles) of the gene. If the father has two copies of an allele for red ... Mutations create new alleles. These alleles have new DNA sequences and can produce proteins with new properties. So if an ...
MHC class I polypeptide-related sequence BMHC class I polypeptide-related sequence B
Fischer G, Pérez-Rodríguez M, Argüello JR, Cox ST, McWhinnie A, Travers PJ, Madrigal JA (Feb 2000). "Three novel MICB alleles ... alleles". Tissue Antigens. 51 (6): 649-52. doi:10.1111/j.1399-0039.1998.tb03008.x. PMID 9694358. Steinle A, Groh V, Spies T ( ...
ExtramacrochaetaeExtramacrochaetae
Its Fly Base designation is Dmel_emc, and its location is at 3L:749,406..753,505 [+]. 86 alleles have been reported. The Emc ...
HLA-AHLA-A
The A signifies which HLA gene the allele belongs to. There are many HLA-A alleles, so that classification by serotype ... due to the diversity amongst those alleles, it is difficult to classify each and every allele's impact upon immune regulation ... In other words, every single person can only express either one or two of the 2432 known HLA-A alleles. All HLAs are assigned a ... An HLA name looks something like this: HLA-A*02:01:01:02L All alleles receive at least a four digit classification (HLA-A*02:12 ...
Hardy-Weinberg principleHardy-Weinberg principle
Consider an extra allele frequency, r. The two-allele case is the binomial expansion of (p + q)2, and thus the three-allele ... The allele frequencies at each generation are obtained by pooling together the alleles from each genotype of the same ... Alleles are inherited independently from each parent. A dominant allele can be inherited from a homozygous dominant parent with ... While directional selection eventually leads to the loss of all alleles except the favored one (unless one allele is dominant, ...
Ewenss sampling formulaEwens's sampling formula
... and Every mutant allele is novel. (See also infinite-alleles model.) This is a probability distribution on the set of all ... and a2 alleles represented twice, and so on, is Pr ⁡ ( a 1 , … , a n ; θ ) = n ! θ ( θ + 1 ) ⋯ ( θ + n − 1 ) ∏ j = 1 n θ a j j ... describes the probabilities associated with counts of how many different alleles are observed a given number of times in the ... "The sampling theory of selectively neutral alleles", Theoretical Population Biology, volume 3, pages 87-112, 1972. H. Crane. ( ...
HLA-A33HLA-A33
Certain alleles confound population histories. At the top of that list is A*3303. This allele appears to jump, literally, out ... DQB1*0201 It is interesting that the Cw allele in the Pakistani population is the same as the allele in the east Asian ... For A33, the alpha "A" chain are encoded by the HLA-A*33 allele group and the β-chain are encoded by B2M locus. A33 and A*33 ... Hong W, Fu Y, Chen S, Wang F, Ren X, Xu A (2005). "Distributions of HLA class I alleles and haplotypes in Northern Han Chinese ...
MicrosatelliteMicrosatellite
... "null allele" in a gel assay), thus only one allele is amplified (from the non-mutated sister chromosome), and the individual ... Null alleles in this case can sometimes be indicated by an excessive frequency of homozygotes causing deviations from Hardy- ... Null alleles are caused especially by mutations at the 3' section, where extension commences. In species or population analysis ... Most slippage results in a change of just one repeat unit, and slippage rates vary for different allele lengths and repeat unit ...
HLA-A*02HLA-A*02
"HLA Nomenclature @ hla.alleles.org". Anthony Nolan Research Institute. 10 Nov 2013. Retrieved 8 Dec 2013. "Allele Search Tool ... allele group at the HLA-A locus. The A*02 allele group can code for many proteins; as of December 2013 there are 456 different ... Allele Query Form IMGT/HLA - European Bioinformatics Institute Daniel M. Davis (2014). The Compatibility Gene. How Our Bodies ... The serotyping for the most abundant A*02 alleles is good. For A*0203, A*0206, A*0207 serotyping is borderline useful. There is ...
HLA-BHLA-B
Closely related alleles are categorized together; for example, at least 28 very similar alleles are subtypes of HLA-B27. These ... Hundreds of versions (alleles) of HLA-B are known, each of which is given a particular number (such as HLA-B27). ... "HLA-B*5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol". Proceedings of the ...
ActinActin
Some alleles of actin cause diseases; for this reason techniques for their detection have been developed. In addition, actin ... A large number of illnesses and diseases are caused by mutations in alleles of the genes that regulate the production of actin ... It was the first of the six genes where alleles were found that were implicated in pathological processes. A number of ... Actin's affinity for profilin is greatly reduced in this allele. The ACTG1 locus codes for the cytosolic γ-actin protein that ...
PEPDPEPD
Ledoux P, Scriver C, Hechtman P (Jun 1994). "Four novel PEPD alleles causing prolidase deficiency". American Journal of Human ... Boright AP, Scriver CR, Lancaster GA, Choy F (May 1989). "Prolidase deficiency: biochemical classification of alleles". ... "Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a ...
PhasevarionPhasevarion
In S. pneumoniae, selection of particular SpnD39III alleles (allele A) occurs when S. pneumoniae is present in blood, which ... Neisseria species contain seven modB alleles; and Helicobacter pylori contains seventeen modH alleles. Individual strains of ... No selection for any SpnD39III allele was seen when S. pneumoniae was present in the nasopharynx. Srikhanta YN, Maguire TL, ... Phase-variation of the modA2 allele also results in NTHi populations with distinct advantages under oxidative stress and ...
Superman (gene)Superman (gene)
Kakutani, Tetsuji (2002-10-15). "Epi-Alleles in Plants: Inheritance of Epigenetic Information over Generations". Plant and Cell ... Jacobsen, Steven E.; Meyerowitz, Elliot M. (1997-08-22). "Hypermethylated SUPERMAN Epigenetic Alleles in Arabidopsis". Science ... These Clark Kent alleles can be inherited, but often, through mutation will revert to the natural gene at a rate of about 3% ...
CYP2D6CYP2D6
... while functional alleles represent only around 50% of the allele frequency in populations of Asian descent. This variability is ... Pharmacogenomic tests are now available to identify patients with variations in the CYP2D6 allele and have been shown to have ... Pharmacogenomic tests are now available to identify patients with variations in the CYP2D6 allele and have been shown to have ... "CYP2D6 allele nomenclature". Retrieved 5 February 2016. Australian Medicines Handbook (AMH) 2004. ISBN 0-9578521-4-2[page ...
Dark skinDark skin
"Graphical display of Allele Frequencies for Ala111Thr". Allele Frequency Database. Retrieved 10 October 2012. "ALFRED - ... So, while the MC1Rf gene does not significantly contribute to variation in skin colour around the world, the allele found in ... Polymorphism Information - Ala111Thr". Allele Frequency Database. Retrieved 10 October 2012. Pagani, Luca; Toomas Kivisild, ... collected from studies on MC1R gene has shown that there is a lack of diversity in dark-skinned African samples in the allele ...
Light skinLight skin
"Graphical display of Allele Frequencies for Ala111Thr". Allele Frequency Database. Retrieved 10 October 2012. "ALFRED - ... 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 ... 2007). "A melanocortin-1 receptor allele suggests varying pigmentation among Neanderthals". Science. 318 (5855): 1453-1455. doi ...
Alzheimers Disease Neuroimaging InitiativeAlzheimer's Disease Neuroimaging Initiative
APOE ε4 allele. As this allele is the biggest risk factor for late onset AD, it is commonly used in subject selection. Outcome ... or carry an APOE ε4 allele are at a higher risk for AD. Therefore clinical trial participants can be selected using these ...
CYP2C9CYP2C9
Sim, Sarah C (2 May 2011). "CYP2C9 allele nomenclature". Cytochrome P450 (CYP) Allele Nomenclature Committee. [self-published ... Allele frequencies(%) of CYP2C9 polymorphism Most inhibitors of CYP2C9 are competitive inhibitors. Noncompetitive inhibitors of ...
Serpentine soilSerpentine soil
"Borrowed alleles and convergence in serpentine adaptation". Proceedings of the National Academy of Sciences. 113 (29): 8320. ...
HLA-DR17HLA-DR17
These serotypes are the result of gene products from the HLA-DRB3* and HLA DQA1*0501 and HLA DQB1*0201 alleles. DRB1*0301 is ... Deja G, Jarosz-Chobot P, Polańska J, Siekiera U, Małecka-Tendera E (2006). "Is the Association Between TNF-α-308 A Allele and ... Shawkatova I, Michalkova D, Barak L, Fazekasova H, Kuba D, Buc M (2006). "HLA class II allele frequencies in type 1A diabetes ... Parsons K, Kwok W, Gaur L, Nepom G (2000). "Increased frequency of HLA class II alleles DRB1*0301 and DQB1*0201 in Lambert- ...
Warren EwensWarren Ewens
"The sampling theory of selectively neutral alleles". Theoretical Population Biology. 3 (1): 87-112. doi:10.1016/0040-5809(72) ...
OrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesDisciplines and OccupationsTechnology, Industry, AgricultureInformation ScienceNamed GroupsHealth CareGeographicals
AllelesGenotypeGene FrequencyPolymorphism, GeneticPolymorphism, Single NucleotideMutationGenetic Predisposition to DiseasePhenotypeHaplotypesGenetic VariationHeterozygoteMolecular Sequence DataHomozygoteBase SequencePolymerase Chain ReactionChromosome MappingLinkage DisequilibriumMicrosatellite RepeatsGenetic MarkersCase-Control StudiesHLA-DRB1 ChainsCrosses, GeneticPolymorphism, Restriction Fragment LengthModels, GeneticGenetics, PopulationSequence Analysis, DNAAmino Acid SequencePedigreeGenetic LinkageGenetic Association StudiesAsian Continental Ancestry GroupExonsDNA Mutational AnalysisDNA PrimersHLA-DQ AntigensHLA-DR AntigensGenes, LethalSelection, GeneticGenetic LociGenes, DominantEuropean Continental Ancestry GroupHLA-B AntigensGenes, RecessiveApolipoprotein E4Suppression, GeneticPoint MutationDNARecombination, GeneticMinisatellite RepeatsGenetic Complementation TestHeterozygote DetectionGene DeletionMutation, MissensePromoter Regions, GeneticRisk FactorsQuantitative Trait LociGenome-Wide Association StudyHLA-DQ alpha-ChainsIntronsCloning, MolecularGenes, PlantSaccharomyces cerevisiaeEpistasis, GeneticDrosophila melanogasterGenetic TestingHLA AntigensApolipoproteins EGenes, FungalPhylogenyMutagenesisChinaEvolution, MolecularHLA-A AntigensAfrican Continental Ancestry GroupGenesSequence DeletionPolymorphism, Single-Stranded ConformationalDNA-Binding ProteinsTranscription FactorsDinucleotide RepeatsHLA-C AntigensMutagenesis, InsertionalCohort StudiesBlotting, SouthernGene DosageSpecies SpecificityRNA, MessengerGenotyping TechniquesZea maysSequence Homology, Amino AcidFungal ProteinsGenes, MHC Class IITrinucleotide RepeatsGenes, SuppressorDrosophila ProteinsFrameshift MutationSaccharomyces cerevisiae ProteinsDNA, PlantSequence AlignmentInheritance Patterns
Characterization of MHC DRB3.2 Alleles of Crossbred Cattle by Polymerase Chain Reaction-Restriction Fragment Length PolymorphismCharacterization of MHC DRB3.2 Alleles of Crossbred Cattle by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism
Characterization of BoLA-DRB3.2 Alleles in Hanwoo (Korean cattle) by Sequence Based Typing (SBT)2007 December;20(12) ... Characterization of MHC DRB3.2 Alleles of Crossbred Cattle by Polymerase Chain Reaction-Restriction Fragment Length ... Characterization of MHC DRB3.2 Alleles of Crossbred Cattle by Polymerase Chain Reaction-Restriction Fragment Length ...
ajas.info
Why Are Dominant Lethal Genes Rare - portsettpon - dayviews.comWhy Are Dominant Lethal Genes Rare - portsettpon - dayviews.com
... allele,of,a,gene,that,codes,for,the,.,A,common,mistake,is,to,believe,that,if,an,allele,is,dominant,,.In,addition,to,there,being ... alleles,rather,than,dominant,alleles.,Based,on,this,exercise,,can,you,explain,why,a,recessive,lethal,gene,could,.Why,are, ... alleles,,is,,that,,they,,are,,more,,common,,in,,the,,population.,,Explain,,why,,dominant,,alleles,,can,,be,,quite,,rare,,.,,of ... Alleles,,-,,Its,,Instances,,in,,Humans,,,Plants,,and,,.,,Examples,,of,,diseases,,caused,,by,,dominant,,lethal,,allele,,in,,.,,A ...
dayviews.com
Pseudodeficiency alleles - WikipediaPseudodeficiency alleles - Wikipedia
A pseudodeficiency allele may indicate a deficiency of the enzyme assay method, or it may reflect incomplete understanding of ... A pseudodeficiency allele or pseudodeficiency mutation is a mutation that alters the protein product or changes the genes ... Because of pseudodeficiency alleles, the results of enzyme assay testing in one population cannot be generalized to other ... One possible cause of false positive results is a pseudodeficiency allele. Disease may also be present, but at a subclinical ...
en.wikipedia.org
Infinite alleles model - WikipediaInfinite alleles model - Wikipedia
Beyond this number of alleles, the selective advantage of presence of those alleles in heterozygous genotypes would be ... that there were a large enough number of alleles so that any mutation would lead to a different allele (that is the probability ... The infinite alleles model is a mathematical model for calculating genetic mutations. The Japanese geneticist Motoo Kimura and ... The effective number of alleles n maintained in a population is defined as the inverse of the homozygosity, that is n = 1 F = 4 ...
en.wikipedia.org
Multiple Alleles | Encyclopedia.comMultiple Alleles | Encyclopedia.com
A gene for which at least two alleles exist is said to be polymorphic. ... Multiple Alleles Alleles are alternative forms of a gene, and they are responsible for differences in phenotypic expression of ... Multiple Alleles Genetics Copyright Genetics Society of America. Multiple Alleles. Alleles are alternative forms of a gene, and ... multiple alleles Three or more alternative forms of a gene (alleles) that can occupy the same locus. However, only two of the ...
encyclopedia.com
collapsing allelescollapsing alleles
... Michael Braverman braver at magnolia.cs.berkeley.edu Tue Jan 3 14:35:55 EST 1995 *Previous message: ... alleles? I have never done it, and would like to learn how to. , ,Thanks! , ,Dean , You may be interested in the following ... This article was inspired by Otts original work on collapsing alleles, but extends his ideas in two important ways (while ...
bio.net
sexual antagonistic allele | ScienceBlogssexual antagonistic allele | ScienceBlogs
Youve got to feel sorry for the female seed beetle. Whenever she mates with a male, she has to contend with his spiked, nightmarish penis (remember this picture?). And despite the damage that it inflicts, one liaison just isnt enough; female seed beetles typically mate with many males before they lay their eggs. Surely, she must benefit in some way? The most likely idea is that she somehow ensures that her eggs are fertilised by sperm from males with the "best" genes - those that either make for particularly fit and healthy young, or that are a compatible match for the females own genes.… ...
scienceblogs.com
ApoE4 | allele | Britannica.comApoE4 | allele | Britannica.com
Other articles where ApoE4 is discussed: Alzheimer disease: Genetic variants: …of this gene-APOE2, APOE3, and APOE4-two of which, APOE3 and APOE4, are associated with an increased risk of disease and influence the age of onset of disease.
britannica.com
FCGR2A Allele and Genotype Frequencies | CDCFCGR2A Allele and Genotype Frequencies | CDC
... 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. ...
cdc.gov
High-throughput allelesHigh-throughput alleles
These are alleles generated through high-throughput, genome-wide projects. Million Mutation Project alleles are placed in a ...
wormbase.org
Bio::Variation::Allele - search.cpan.orgBio::Variation::Allele - search.cpan.org
Bio::Variation::Allele - Sequence object with allele-specific attributes. SYNOPSIS $allele1 = Bio::Variation::Allele-,new ( - ... A lot of the complexity with dealing with Allele objects are caused by null alleles; Allele objects that have zero length ... List of alleles describe known sequence alternatives in a variable region. Alleles are contained in Bio::Variation::VariantI ... Bio::Varation::Alleles are PrimarySeqI complying objects which can contain database cross references as specified in Bio:: ...
search.cpan.org
Allele - New Songs, Playlists & Latest News - BBC MusicAllele - New Songs, Playlists & Latest News - BBC Music
Find the best clips, watch programmes, catch up on the news, and read the latest Allele interviews. ...
bbc.co.uk
Alleles and Genes | Physics ForumsAlleles and Genes | Physics Forums
I am trying to get some clarity on the concept of allele. Please let me know if my concepts are correct: Each human cell ( ... Different variants of a gene are called alleles. Thus, each individual has two alleles of every gene. These two alleles can be ... alleles, in some cases only in two. Regardless, every human being always has only two alleles, i.e. two different types of a ... Allele - member of a single gene family. For one trait there can be several sets of alleles, maybe all different, for a ...
physicsforums.com
hy alleles in Nossen background?hy alleles in Nossen background?
... Marc Crepeau ez018859 at bullwinkle.ucdavis.edu Thu Feb 15 20:34:00 EST 1996 *Previous ...
bio.net
Phenotypes, Alleles & Disease Models SearchPhenotypes, Alleles & Disease Models Search
Allele Attributes Conditional ready. Recombinase. RMCE-ready. Inserted expressed sequence. Humanized sequence. Reporter. ... Search for mutant or genetically engineered alleles, transgenes, or QTL variants by phenotype, disease, nomenclature, ...
informatics.jax.org
Activating alleles of JAK3 in acute megakaryoblastic leukemia. - PubMed - NCBIActivating alleles of JAK3 in acute megakaryoblastic leukemia. - PubMed - NCBI
Activating alleles of JAK3 in acute megakaryoblastic leukemia.. Walters DK1, Mercher T, Gu TL, OHare T, Tyner JW, Loriaux M, ... Subsequent analysis identified two additional JAK3 alleles, V722I and P132T, in AMKL patients. JAK3(A572V), JAK3(V722I), and ...
ncbi.nlm.nih.gov
Generating rats with conditional alleles using CRISPR/Cas9. - PubMed - NCBIGenerating rats with conditional alleles using CRISPR/Cas9. - PubMed - NCBI
Generating rats with conditional alleles using CRISPR/Cas9.. Ma Y1, Zhang X1, Shen B2, Lu Y1, Chen W1, Ma J1, Bai L1, Huang X2 ... D) In vitro Cre/loxP-mediated recombination of the floxed Dnmt3b allele. Primers DF/DR and CF/CR were used to amplify the ... A) A schematic overview of the strategy to generate a Dnmt3a conditional allele. In the donor vector, mloxP sites are indicated ... PCR analyses of the Cre-treated samples using primers DF and DR flanking the floxed allele produced shorter products. The ...
ncbi.nlm.nih.gov
Quantification of mutant alleles ... preview & related info | MendeleyQuantification of mutant alleles ... preview & related info | Mendeley
Quantification of mutant alleles in circulating tumor DNA can predict survival in lung cancer. *Yang X ... Yang, X., Zhuo, M., Ye, X., Bai, H., Wang, Z., Sun, Y., … Wang, J. (2016). Quantification of mutant alleles in circulating ... Absolute quantities of plasma EGFR mutant and wild-type alleles were measured by ddPCR. Multi-genes testing was performed using ...
mendeley.com
Allele | Definition of Allele at Dictionary.comAllele | Definition of Allele at Dictionary.com
Allele definition, any of several forms of a gene, usually arising through mutation, that are responsible for hereditary ... In almost all animal cells, two alleles for each gene are inherited, one from each parent. Paired alleles (one on each of two ... allele. 1930-35; < German Allel, apparently as shortening of German equivalents of allelomorph or allelomorphic gene; allelo- ... allele. C20: from German Allel, shortened from allelomorph, from Greek allēl- one another + morphē form ...
dictionary.com
Chains Of Alice Lyrics - AlleleChains Of Alice Lyrics - Allele
Lyrics to Chains Of Alice by Allele: Sober company to find, / As you walk into a lice / Just the token of divine, / To everyone ...
lyricsfreak.com
New alleles for complex cell labelingNew alleles for complex cell labeling
... By Kristin Lamont Ph.D. Mapping specified cell types at intersections of gene expression ... Of note, Flp- or Dre-deleted alleles derived from RC::RFLTG mice (stock numbers 026931 and 026932 respectively), are available ... Jensens team created a new strain that carries a reporter allele that will label cells defined by the overlapping expression ... To demonstrate the utility of their new intersectional reporter allele, the researchers crossed the reporter-bearing mice with ...
jax.org
Recessive allele - ConservapediaRecessive allele - Conservapedia
A recessive allele is an allele that will not determine the phenotype unless the genotype is homozygous with that allele.[1] ... Examples of recessive alleles include the allele for green in the pea Pisum sativum (the subject of Gregor Mendels heredity ... Retrieved from "http://www.conservapedia.com/index.php?title=Recessive_allele&oldid=865623" ...
conservapedia.com
HLA allele frequenciesHLA allele frequencies
... Kevin Mulcahy K.Mulcahy at Sheffield.ac.uk Fri Jul 7 09:51:54 EST 1995 *Previous message: HLA allele ... 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, ... In addition, could you also tell me the frequencies of the alleles in the population? Id be most grateful if anybody could ...
bio.net
Glossary:Allele CombinationGlossary:Allele Combination
... all allele pairs of a genotype). An allele combination can be composed of one or more allele pairs. ... A designation of the specific alleles present on the two homologous chromosomes for all relevant loci of a mouse (i.e., ...
informatics.jax.org
OrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesDisciplines and OccupationsTechnology, Industry, AgricultureInformation ScienceNamed GroupsHealth CareGeographicals
AllelesGenotypeGene FrequencyPolymorphism, GeneticPolymorphism, Single NucleotideMutationGenetic Predisposition to DiseasePhenotypeHaplotypesGenetic VariationHeterozygoteMolecular Sequence DataHomozygoteBase SequencePolymerase Chain ReactionChromosome MappingLinkage DisequilibriumMicrosatellite RepeatsGenetic MarkersCase-Control StudiesHLA-DRB1 ChainsCrosses, GeneticPolymorphism, Restriction Fragment LengthModels, GeneticGenetics, PopulationSequence Analysis, DNAAmino Acid SequencePedigreeGenetic LinkageGenetic Association StudiesAsian Continental Ancestry GroupExonsDNA Mutational AnalysisDNA PrimersHLA-DQ AntigensHLA-DR AntigensGenes, LethalSelection, GeneticGenetic LociGenes, DominantEuropean Continental Ancestry GroupHLA-B AntigensGenes, RecessiveApolipoprotein E4Suppression, GeneticPoint MutationDNARecombination, GeneticMinisatellite RepeatsGenetic Complementation TestHeterozygote DetectionGene DeletionMutation, MissensePromoter Regions, GeneticRisk FactorsQuantitative Trait LociGenome-Wide Association StudyHLA-DQ alpha-ChainsIntronsCloning, MolecularGenes, PlantSaccharomyces cerevisiaeEpistasis, GeneticDrosophila melanogasterGenetic TestingHLA AntigensApolipoproteins EGenes, FungalPhylogenyMutagenesisChinaEvolution, MolecularHLA-A AntigensAfrican Continental Ancestry GroupGenesSequence DeletionPolymorphism, Single-Stranded ConformationalDNA-Binding ProteinsTranscription FactorsDinucleotide RepeatsHLA-C AntigensMutagenesis, InsertionalCohort StudiesBlotting, SouthernGene DosageSpecies SpecificityRNA, MessengerGenotyping TechniquesZea maysSequence Homology, Amino AcidFungal ProteinsGenes, MHC Class IITrinucleotide RepeatsGenes, SuppressorDrosophila ProteinsFrameshift MutationSaccharomyces cerevisiae ProteinsDNA, PlantSequence AlignmentInheritance Patterns
Multiple AllelesPhenotypeGenotypeRisk allelesWild-type allelesVariantsChromosomesChromosomeVariationTraitsSequencesNull allelesIdenticalVariantResistance allelesHeterozygoteSingle nucleotideInheritanceSequenceDefinitionCRISPRHomozygotesPhenotypic expressionConditionalPairsSNPsDisease
Multiple Alleles11
Phenotype13
Genotype5
Risk alleles5
  • The paper showcases how CRISPR/Cas9 can help validate risk alleles in disease. (alzforum.org)
  • Researchers have begun using the system to test the function of disease risk alleles identified in GWAS. (alzforum.org)
  • Risk alleles identified from genome-wide association studies (GWAS) could improve prognostication. (nih.gov)
  • We found that type 2 diabetes risk alleles at the CDKAL1 and HHEX-IDE loci were associated with reduced birth weight when inherited by the fetus: 21g [95%CI:11-31g], P =2×10 −5 and 14g [4-23g], P =0.004 lower birth weight per risk allele, respectively. (diabetesjournals.org)
  • The 4% of offspring carrying four risk alleles at these two loci were 80g [39-120g] lighter at birth than the 8% carrying none ( P trend =5×10 −7 ). (diabetesjournals.org)
Wild-type alleles2
Variants3
  • Note that with the advent of neutral genetic markers , the term 'allele' is now often used to refer to DNA sequence variants in non-functional, or junk DNA . (bionity.com)
  • Sternberg and his team will construct C. elegans strains that that replace the normal C. elegans allele with human variants, comparing the phenotypes of autism-variant strains with those carrying the standard allele as well as with strains lacking the protein. (sfari.org)
  • Similar levels of microsatellite diversity were found on variants G6PD*B and G6PD*A ( H = 0.61 and 0.68, respectively), indicating a similar age for both alleles. (bioone.org)
Chromosomes1
  • v ) After fertilization, persistent Cas9 can convert the paternal and remaining maternal wild-type chromosomes of the initial zygote into resistance alleles. (pnas.org)
Chromosome2
Variation3
  • When Richard Lewontin and J. Hubby published their groundbreaking results in 1966 which showed high levels of genetic variation in Drosophila via protein electrophoresis, the theoretical results from the infinite alleles model were used by Kimura and others to support the idea that this variation would have to be neutral (or result in excess segregational load). (wikipedia.org)
  • High sequencing depth can also be used to identify phylogenetically informative allelic variation within sequenced individuals, but allele sequences are infrequently assembled in phylogenetic studies. (gu.se)
  • Different alleles produce variation in inherited characteristics such as hair color or blood type . (creationwiki.org)
Traits4
Sequences5
  • Alleles are different by state if they have different DNA sequences . (wikipedia.org)
  • Here, we develop an easy-to-use pipeline to recover allele sequences from sequence capture data, and we use simulated and empirical data to demonstrate the utility of integrating these allele sequences to analyses performed under the multispecies coalescent model. (gu.se)
  • Our simulations provide evidence that analyzing allele sequences leads to more accurate estimates of tree topology and divergence times than the more common approach of using contig sequences. (gu.se)
  • The high yield of Neanderthal mtDNA sequences of the studied specimen, the pattern of nucleotide misincorporation among sequences consistent with post-mortem DNA damage and an accurate control of the MCPH1 alleles in all personnel that manipulated the sample, make it extremely unlikely that this result might reflect modern DNA contamination. (plos.org)
  • In this paper, 13 T descriptors, which derived from 544 physicochemical properties of the natural amino acids, were used to characterize 4 MHC class I alleles epitope peptide sequences, the optimal QSAR models were constructed by using stepwise regression combines with multiple linear regression (STR-MLR). (ingentaconnect.com)
Null alleles1
  • Complement and c4 null alleles in severe chronic adult periodontitis. (diva-portal.org)
Identical1
Variant1
  • We identified a PAM variant of Staphylococcus aureus Cas9 (SaCas9-KKH) that selectively and efficiently disrupted the mutant allele, but not the wild-type Tmc1/TMC1 allele, in Beethoven mice and in a DFNA36 human cell line. (nature.com)
Resistance alleles2
  • The fraction above the black bar specifies those resistance alleles in the two-gRNA drive in which the intermediate sequence between the two target sites was deleted. (pnas.org)
  • We further show that an autosomal drive can achieve drive conversion in the male germline, with no subsequent formation of resistance alleles in embryos through paternal carryover of Cas9. (pnas.org)
Heterozygote2
Single nucleotide2
  • The locations of the four amino acid substitutions that discriminate A and B transferases are indicated by red arrows, and the O-allele specific single nucleotide deletion at nucleotide 261 is shown with a blue arrow. (google.com)
  • We have sequenced a large portion of each of the two alleles, including some of the 5′ promoter region, exon 1, intron 1, and exon 2, and determined that a single nucleotide polymorphism at base +317 (relative to transcription start site) is responsible for the presence or absence of the Pst I restriction site. (aacrjournals.org)
Inheritance2
Sequence9
Definition1
CRISPR1
  • Generating rats with conditional alleles using CRISPR/Cas9. (nih.gov)
Homozygotes1
Phenotypic expression1
Conditional4
Pairs1
SNPs1
  • All SNPs were skewed towards the A allele (from B73) in the non-sweet corn RILs and towards the C allele (from P39) in the sweet corn RILs. (springer.com)
Disease2
  • HIV disease in people with the B*3503 allele progresses significantly faster than it does in people with the B*3501 allele. (clinicaltrials.gov)
  • These data will be useful in explaining the difference in disease progression between individuals possessing B*35 Px alleles and those with B*35 PY alleles. (clinicaltrials.gov)