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
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,
https://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-018-0322-5
alleles definition biologyalleles definition biology
Alleles were first defined by Gregor Mendel in the law of segregation. Importance of Allelism. Multiple alleles is a type of non-Mendelian inheritance pattern that involves more than just the typical two alleles that usually code for a certain characteristic in a species. Theories of Allelism 5. Definition of Genotype in Biology: The set of genes in our DNA which is responsible for a specific trait is known as genotype. Lastly, look in the mirror and smile. Learn vocabulary, terms, and more with flashcards, games, and other study tools. Exploring Alleles. People inherit one allele for each autosomal gene from each parent, and we tend to lump the alleles into categories. Allele definition, any of several forms of a gene, usually arising through mutation, that are responsible for hereditary variation. Meaning of Allele: Alternative form of a gene is known as allele. Gene. Heredity Definition. Characteristics of Multiple Alleles 3. Start studying Biology - Traits, genes And Alleles. An Allele is an ...
http://www.mercinewyork.com/jw25ta0/alleles-definition-biology-f2b522
The dominant paradigm for the evolution of mutator alleles in bacterial | MEK inhibitors activate Wnt signallingThe dominant paradigm for the evolution of mutator alleles in bacterial | MEK inhibitors activate Wnt signalling
The dominant paradigm for the evolution of mutator alleles in bacterial populations is that they spread by indirect selection for linked beneficial mutations when bacteria are poorly adapted. the first experimental evidence that direct selection can favour mutator alleles in bacterial populations, and pave the way for BEZ235 manufacturer future studies to understand how mutation and DNA repair are linked to stress responses and how this affects the evolution of bacterial mutation rates. mutant displays altered expression of a small number of housekeeping genes [16], raising the possibility that direct fitness costs and benefits may be associated with mutator alleles as a result of the pleiotropic effects of mutator alleles on gene expression. While the initial goal of this study was to investigate the interplay between BEZ235 manufacturer phenotypic and genetic changes in mutation rates in response to stress, preliminary findings led us to study the impact of direct stress-imposed selection on ...
https://bbcpk.org/the-dominant-paradigm-for-the-evolution-of-mutator-alleles-in-bacterial/
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 ...
https://bjid.org.br/en-a-systematic-review-on-the-articulo-S1413867018305567
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 ...
https://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2350-4-2
HLA typing in a Kenyan cohort identifies novel class I alleles that restrict cytotoxic T-cell responses to local HIV-1 clades. ...
OBJECTIVES: To investigate HLA class I allele frequencies in a Kenyan commercial sex worker (CSW) cohort, and to examine HIV-1 specific cytotoxic T lymphocyte (CTL) responses directed against epitopes derived from locally prevalent clade A virus. METHODS: PCR-single strand polymorphism HLA class I typing. Sequencing of novel alleles and examination of their distribution in the CSW cohort, and a low risk HIV uninfected cohort. The peptide-binding motif of a novel class I allele was predicted, and a panel of candidate CTL epitopes was synthesized whose functional significance was examined using ELISpot and Cr release assays. RESULTS: Class I HLA-A and B frequencies within the cohort are presented. Two novel class I alleles were found, HLA-B*4415 and HLA-Cw*0407. These two class I alleles were relatively common, both in the CSW cohort (2.1% and 3.3% respectively) and in a cohort of lower risk women (1.9% and 3.8% respectively). Allele HLA-B*4415 restricted CTL responses against a novel epitope (EEKAFSPEV)
https://www.ndmrb.ox.ac.uk/research/research/publications/6700
alleles meaning in marathi
If a mutation occurs within a gene, the new allele may affect the trait that the gene controls, altering the phenotype of the organism. In a very true sense, alleles -- variations of genes -- are the basic unit of biological evolution. 15 It is the bit of coding DNA at that place. The characteristic feature of a dominant allele is that it has the ability to mask the effect of other genes during inheritance and expression. Multiple Alleles . Collagen-Induced Arthritis. Human blood type is determined by the presence or absence of certain identifiers, called antigens, on the surface of red blood cells.Individuals with blood type A have A antigens on blood cell surfaces, those with type B have B … While most genes exist in two allele forms, some have multiple alleles for a trait. Multiple alleles definition: three or more alternative forms of a particular gene existing in a population , Meaning, pronunciation, translations and examples Fun Facts about the name Alleles. It is genotypically a hybrid ...
https://beerbanter.com/chloe-wilde-fergvn/alleles-meaning-in-marathi-4f76a0
Apoe 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: ...
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/6239
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 ...
https://jhu.pure.elsevier.com/en/publications/identification-of-a-novel-hla-cw05-allele-cw0503
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?
https://legal-dictionary.thefreedictionary.com/Multiple+alleles
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 , , --- ...
http://www.bio.net/bionet/mm/celegans/2002-December/002558.html
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 ...
https://clincancerres.aacrjournals.org/content/5/7/1849?ijkey=fa7689e41946e9534bdc638912bf239fddc881a0&keytype2=tf_ipsecsha
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 ...
http://msb.embopress.org/content/5/1/274
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 ...
http://oxfordindex.oup.com/view/10.1093/hmg/7.3.517
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 ...
https://en.m.wikipedia.org/wiki/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
https://www.coursehero.com/file/6189496/wk2/
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 ...
https://en.wikipedia.org/wiki/Stepwise_mutation_model
UniProtKB/SwissProt variant VAR 082328UniProtKB/SwissProt variant VAR 082328
Highly polymorphic. Polymorphic residues encode for alpha-1 and alpha-2 domains of the peptide-binding cleft, where they contribute to variations in peptide binding and TCR recognition among different alleles. The human population is estimated to have millions of HLA-A alleles. But only 11 common HLA-A alleles are considered core alleles, representing all functionally significant variation (polymorphism) in alpha-1 and alpha-2 domains. These are: A*01:01; A*02:01; A*02:05; A*03:01; A*11:01; A*24:02; A*26:01; A*29:02; A*30:01; A*74:01 and A*80:01. Among these, A*02:01; A*11:01; A*24:02 and A*26:01, were likely passed by introgression from archaic to modern humans. Functional alleles of more recent origin (non-core) were derived by recombination (PubMed:28650991). The sequence shown is that of A*03:01. The sequences of core alleles and common representative alleles of serologically distinct allele groups are described as variants of A*03:01 (PubMed:28650991). Allele A*31:01 is associated with ...
https://web.expasy.org/variant_pages/VAR_082328.html
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 ...
http://repository.cshl.edu/31637/
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 ...
http://onlinelibrary.wiley.com/doi/10.1111/j.1348-0421.2010.00206.x/references
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).. ...
http://search.cpan.org/dist/BioPerl/Bio/Variation/Allele.pm
Genome-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 ...
http://morotalab.org/asci431-2017/day06/day06.html
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 ...
https://stacks.cdc.gov/view/cdc/44262
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 ...
http://cancerres.aacrjournals.org/content/66/8_Supplement/1077.1
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 ...
http://www.apsnet.org/EDCENTER/ADVANCED/TOPICS/POPGENETICS/Pages/Hardy-WeinbergEquilibrium.aspx
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. ...
http://www.conservapedia.com/Recessive_allele
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 ...
https://www.genetics.org/content/205/4/1587.figures-only
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 ...
http://www.scielo.br/scielo.php?script=sci_abstract&pid=S0004-27302009000300012&lng=en&nrm=iso
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 ...
http://theleagueofreason.co.uk/viewtopic.php?f=8&t=14643&sid=0d9de36f6e5020e25bb34110ab08a8cc&start=60
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 ...
https://researchoutput.ncku.edu.tw/zh/publications/evolutionary-origins-of-retroposon-lineages-of-mhc-class-ii-ab-al
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.. ...
http://pages.ingenuity.com/Allele-Com-items_AlleleFreq-LP.html
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 ...
http://atvb.ahajournals.org/content/21/11/1834
Genetic 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
https://www.immunology.ox.ac.uk/publications/44777
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.. ...
https://eprints.lancs.ac.uk/id/eprint/9817/
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 ...
http://researchrepository.murdoch.edu.au/id/eprint/15643/
Frontiers | Identification of Subject-Specific Immunoglobulin Alleles From Expressed Repertoire Sequencing Data | ImmunologyFrontiers | Identification of Subject-Specific Immunoglobulin Alleles From Expressed Repertoire Sequencing Data | Immunology
The adaptive immune receptor repertoire (AIRR) contains information on an individuals immune past, present and potential in the form of the evolving sequences that encode the B cell receptor (BCR) repertoire. AIRR sequencing (AIRR-seq) studies rely on databases of known BCR germline variable (V), diversity (D), and joining (J) genes to detect somatic mutations in AIRR-seq data via comparison to the best-aligning database alleles. However, it has been shown that these databases are far from complete, leading to systematic misidentification of mutated positions in subsets of sample sequences. We previously presented TIgGER, a computational method to identify subject-specific V gene genotypes, including the presence of novel V gene alleles, directly from AIRR-seq data. However, the original algorithm was unable to detect alleles that differed by more than 5 single nucleotide polymorphisms (SNPs) from a database allele. Here we present and apply an improved version of the TIgGER algorithm which can detect
https://www.frontiersin.org/articles/10.3389/fimmu.2019.00129/full
أجريس
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 ... ...
http://agris.fao.org/agris-search/searchIndex.action?request_locale=ar&recordID=&query=ISSN%3A%282072-0831%29&sourceQuery=ISSN%3A%282072-0831%29&sortField=%E7%9B%B8%E5%85%B3%E6%80%A7&sortOrder=%E4%B8%8B%E9%99%8D&agrovocString=&advQuery=¢erString=&enableField=Disable&aggregatorField=Disable&typeresultsField=Both
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 == ...
http://sujitpal.blogspot.de/2015/02/
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
https://encyclopedia2.thefreedictionary.com/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 ...
http://www.bio.davidson.edu/courses/immunology/Students/spring2000/hutchins/restricted/diabetes.html
Triablogue: Venemas Genesis and the GenomeTriablogue: Venemas 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 ...
http://triablogue.blogspot.com/2012/04/venemas-genesis-and-genome.html
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 ...
https://www.biology-online.org/biology-forum/viewtopic.php?t=14288&p=103096&hilit=Sampling+Error
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 ...
http://cancerres.aacrjournals.org/content/60/10/2598
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? ...
https://www.biostars.org/p/241643/
Hitchhikers 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 ...
http://hitchhikersgui.de/Genotype
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. ...
https://biology.stackexchange.com/questions/80730/is-bi-allelic-gene-expression-random
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 ...
http://www.biology-online.org/biology-forum/about29079.html?hilit=distribution
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 ...
http://therenaissancebiologist.blogspot.com/2008_06_01_archive.html
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 ...
http://ard.bmj.com/content/72/Suppl_3/A199.2
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 ...
http://freebiologybooks.blogspot.com/2007/11/gene-mapping-discovery-and-expression.html
Pseudodeficiency allelesPseudodeficiency alleles
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 gene's ... 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 ...
https://en.wikipedia.org/wiki/Pseudodeficiency_alleles
Infinite alleles modelInfinite alleles model
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 ...
https://en.wikipedia.org/wiki/Infinite_alleles_model
AlleleAllele
If the alleles are different, they, and the organism, are heterozygous with respect to that gene. The word "allele" is a short ... It is now known that each of the A, B, and O alleles is actually a class of multiple alleles with different DNA sequences that ... Popular definitions of 'allele' typically refer only to different alleles within genes. For example, the ABO blood grouping is ... Look up allele in Wiktionary, the free dictionary. ALFRED: The ALlele FREquency Database (Articles with short description, ...
https://en.wikipedia.org/wiki/Allele
Allele frequencyAllele frequency
For 3 alleles see Allele § Allele and genotype frequencies) Allele frequency can always be calculated from genotype frequency, ... Beneficial alleles tend to increase in frequency, while deleterious alleles tend to decrease in frequency. Even when an allele ... then the frequency p of the A-allele and the frequency q of the B-allele in the population are obtained by counting alleles. p ... Earth Human STR Allele Frequencies Database VWA 17 Allele Frequency in Human Population (Poster) Allele Frequencies in ...
https://en.wikipedia.org/wiki/Allele_frequency
Lethal alleleLethal allele
Alleles that need only be present in one copy in an organism to be fatal are referred to as dominant lethal alleles. These ... Lethal alleles (also referred to as lethal genes or lethals) are alleles that cause the death of the organism that carries them ... Lethal alleles may be recessive, dominant, or conditional depending on the gene or genes involved. Lethal alleles can cause ... This was the first documented example of a recessive lethal allele. A pair of identical alleles that are both present in an ...
https://en.wikipedia.org/wiki/Lethal_allele
Allele ageAllele age
Estimating allele age based on the allele's frequency is based on the fact that alleles in high frequency are older than ... Allele age (or mutation age) is the amount of time elapsed since an allele first appeared due to mutation. Estimating the time ... Allele age can be estimated based on (1) the frequency of the allele in a population and (2) the genetic variation that occurs ... This same study also used the allele frequency and the Kimura-Ohta model to estimate allele age. This method provided very ...
https://en.wikipedia.org/wiki/Allele_age
Fixed alleleFixed allele
Eventually the only remaining allele in the population is the brown allele, this allele is now a fixed allele. Fixed alleles ... A fixed allele is an allele that is the only variant that exists for that gene in all the population. A fixed allele is ... Fixation is the process through which an allele becomes a fixed allele within a population. There are many ways for an allele ... When all but one allele go extinct and only one remains, that allele is said to be fixed. There are only two ways in which a ...
https://en.wikipedia.org/wiki/Fixed_allele
Null alleleNull allele
One example of a null allele is the 'O' blood type allele in the human A, B and O blood type system. The alleles for the A- ... Null alleles are difficult to identify because a heterozygous individual for one null allele and one active allele is ... The allele for O blood type, however, is a mutated version of the allele for the A-antigen, with a single base pair change due ... A null allele is a nonfunctional allele (a variant of a gene) caused by a genetic mutation. Such mutations can cause a complete ...
https://en.wikipedia.org/wiki/Null_allele
Allele-specific oligonucleotideAllele-specific oligonucleotide
Samples 1 and 4 only have the normal "A" allele, while samples 3 and 5 have both the "A" and "S" alleles (and are therefore ... An allele-specific oligonucleotide (ASO) is a short piece of synthetic DNA complementary to the sequence of a variable target ... It is designed (and used) in a way that makes it specific for only one version, or allele, of the DNA being tested. The length ... Conner BJ, Reyes AA, Morin C, Itakura K, Teplitz RL, and Wallace RB "Detection of sickle cell beta S-globin allele by ...
https://en.wikipedia.org/wiki/Allele-specific_oligonucleotide
Allele frequency spectrumAllele frequency spectrum
The joint allele frequency spectrum (JAFS) is the joint distribution of allele frequencies across two or more related ... In this table, a 1 indicates that the derived allele is observed at that site, while a 0 indicates the ancestral allele was ... However, sometimes the ancestral allele cannot be determined, in which case the folded allele frequency spectrum may be ... is the distribution of the allele frequencies of a given set of loci (often SNPs) in a population or sample. Because an allele ...
https://en.wikipedia.org/wiki/Allele_frequency_spectrum
Minor allele frequencyMinor allele frequency
... (MAF) is the frequency at which the second most common allele occurs in a given population. They play a ... Allele frequency Hernandez, Ryan D.; Uricchio, Lawrence H.; Hartman, Kevin; Ye, Chun; Dahl, Andrew; Zaitlen, Noah (September ... MAF/MinorAlleleCount: C=0.1506/754 (1000 Genomes, where number of genomes sampled = N = 2504); where C is the minor allele for ... Single nucleotide polymorphisms (SNPs) with a minor allele frequency of 0.05 (5%) or greater were targeted by the HapMap ...
https://en.wikipedia.org/wiki/Minor_allele_frequency
Kompetitive allele specific PCRKompetitive allele specific PCR
If QC is to be used for mapping population non-parental alleles are discarded and alleles for which more than 90% of SNPs are ... Kompetitive allele specific PCR (KASP) is a homogenous, fluorescence-based genotyping variant of polymerase chain reaction. It ... In the first round of PCR, a KASP primer mix that contains the two allele-specific forward primers and the single reverse ... In the second round of PCR, the complementary strand to the allele-specific forward primer is generated when the common reverse ...
https://en.wikipedia.org/wiki/Kompetitive_allele_specific_PCR
Allele Frequency Net DatabaseAllele Frequency Net Database
The Allele Frequency Net Database is a database containing the allele frequencies of immune genes and their corresponding ... Allele Frequency Net Database v t e (Biological databases, Immunology, Population genetics, All stub articles, Biological ... Gonzalez-Galarza, Faviel F; Christmas Stephen; Middleton Derek; Jones Andrew R (Jan 2011). "Allele frequency net: a database ...
https://en.wikipedia.org/wiki/Allele_Frequency_Net_Database
Earth Human STR Allele Frequencies DatabaseEarth Human STR Allele Frequencies Database
Allele Frequency Global Tracking (AFGT) - allows searching for allele frequency distribution at global and regional level. STR ... The Earth Human STR Allele Frequencies Database is a scientific project based on a dynamic web interface and a relational ... Population Genetics DNA profiling Short Tandem Repeat List of online databases EHSTRAFD - Earth Human STR Allele Frequencies ... the allele frequencies gradient distribution over vast geographical areas. ...
https://en.wikipedia.org/wiki/Earth_Human_STR_Allele_Frequencies_Database
List of human leukocyte antigen alleles associated with cutaneous conditionsList of human leukocyte antigen alleles associated with cutaneous conditions
There are many human leukocyte antigen (HLA) alleles associated with conditions of or affecting the human integumentary system ...
https://en.wikipedia.org/wiki/List_of_human_leukocyte_antigen_alleles_associated_with_cutaneous_conditions
Genome editingGenome editing
"Protective alleles". arep.med.harvard.edu. Retrieved 25 July 2021. Harmon A (2017-02-14). "Human Gene Editing Receives Science ... The ideal gene therapy practice is that which replaces the defective gene with a normal allele at its natural location. This is ...
https://en.wikipedia.org/wiki/Genome_editing
Human genetic enhancementHuman genetic enhancement
"Protective alleles". arep.med.harvard.edu. Retrieved 25 July 2021. (CS1 maint: bot: original URL status unknown, CS1: long ...
https://en.wikipedia.org/wiki/Human_genetic_enhancement
Mothers against decapentaplegic homolog 6Mothers against decapentaplegic homolog 6
September 2016). "BMP2 alleles". eLife. 5. doi:10.7554/eLife.20125. PMC 5045293. PMID 27606499. Bai S, Shi X, Yang X, Cao X ( ...
https://en.wikipedia.org/wiki/Mothers_against_decapentaplegic_homolog_6
Phenotypic traitPhenotypic trait
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 ... Different phenotypic traits are caused by different forms of genes, or alleles, which arise by mutation in a single individual ...
https://en.wikipedia.org/wiki/Phenotypic_trait
HLA-B49HLA-B49
derived from IMGT/HLA Middleton D, Menchaca L, Rood H, Komerofsky R (2003). "New allele frequency database: http://www. ...
https://en.wikipedia.org/wiki/HLA-B49
HLA-B56HLA-B56
derived from IMGT/HLA Middleton, D.; Menchaca, L.; Rood, H.; Komerofsky, R. (2003). "New allele frequency database: http://www. ...
https://en.wikipedia.org/wiki/HLA-B56
HLA-A34HLA-A34
... this allele was likely represented in the first wave of immigrants. However, in areas were mixtures of these alleles are ... For A34, the alpha "A" chain are encoded by the HLA-A*34 allele group and the β-chain are encoded by B2M locus. A34 and A*34 ... Allele Query Form IMGT/HLA - European Bioinformatics Institute Middleton D, Menchaca L, Rood H, Komerofsky R (2003). "New ... but questionable whether these are perpetually maintained allele frequencies are simply recent migrants. A*3402 is more ...
https://en.wikipedia.org/wiki/HLA-A34
HLA-B22HLA-B22
HLA-B54HLA-B54
derived from IMGT/HLA Middleton, D.; Menchaca, L.; Rood, H.; Komerofsky, R. (2003). "New allele frequency database: http://www. ...
https://en.wikipedia.org/wiki/HLA-B54
HLA-B60HLA-B60
HLA-A23HLA-A23
For A23, the alpha, "A", chain are encoded by the HLA-A*23 allele group and the β-chain are encoded by B2M locus. This group ... Allele Query Form IMGT/HLA - European Bioinformatics Institute Middleton, D.; Menchaca, L.; Rood, H.; Komerofsky, R. (2003). " ... "Favorable and unfavorable HLA class I alleles and haplotypes in Zambians predominantly infected with clade C human ... "New allele frequency database: http://www.allelefrequencies.net". Tissue Antigens. 61 (5): 403-407. doi:10.1034/j.1399- ...
https://en.wikipedia.org/wiki/HLA-A23
HLA-A10HLA-A10
The ancestral A10 type is believed to be A*2601, which via gene conversion with other HLA-A alleles produced A*2501, A*3401, A* ... Bugawan TL, Mack SJ, Stoneking M, Saha M, Beck HP, Erlich HA (1999). "HLA class I allele distributions in six Pacific/Asian ... A34 is an excellent example, appearing to have expanded from the middle east, with linkage disequilibrium with B alleles into ... 2004). "HLA class-I and class-II allele frequencies and two-locus haplotypes in Melanesians of Vanuatu and New Caledonia" (PDF ...
https://en.wikipedia.org/wiki/HLA-A10
HLA-B16HLA-B16
HLA-B14HLA-B14
The serotype identifies the B*45 gene-allele protein products of HLA-B. B14 is a broad antigen composed to two, B64 and B65, ... This serotype does not have good recognition of any of the alleles, relatively speaking recognizes B*1401 better. This serotype ...
https://en.wikipedia.org/wiki/HLA-B14
ABO (gene)ABO (gene)
The ABO locus encodes three alleles, that is, 3 variants of the same gene. One allele is derived from each parent. The A allele ... Other minor alleles have been found for this gene. There are six common alleles in individuals of European descent. Nearly ... 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 frameshift caused by a deletion of guanine-258 in the gene which ...
https://en.wikipedia.org/wiki/ABO_(gene)
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - Submitter - ClinVarEvidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - Submitter - ClinVar
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), ENIGMA. c/o QIMR Berghofer Medical Research ... Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) (c/o QIMR Berghofer Medical Research ...
https://www.ncbi.nlm.nih.gov/clinvar/submitters/504863/
MTHFR Allele and Genotype Frequencies | CDCMTHFR Allele and Genotype Frequencies | CDC
... are the first allele frequency and genotype prevalence estimates of human genetic variants for the entire U.S. population. ... Allele. % (95% CI). Chi-square. P-value†. Genotype. % (95% CI). Chi-square. P-value†. HW. P-value‡. ... Allele. % (95% CI). Chi-square. P-value. Genotype. % (95% CI). Chi-square. P-value. ... Allele. % (95% CI). Chi-square. P-value. Genotype. % (95% CI). Chi-square. P-value. ...
https://www.cdc.gov/genomics/population/genvar/frequencies/mthfr.htm
Novel alleles gained during the Beringian isolation period | Scientific ReportsNovel alleles gained during the Beringian isolation period | Scientific Reports
... investigation of Native American populations in the Thousand Genomes Project Phase 3 to identify unique high frequency alleles ... Allele gains are the major focus of this paper.. We expect that most alleles gained through founder effects and bottlenecks ... However, in addition to the loss of alleles, genetic drift can elevate the frequencies of rare alleles and new mutations25,26, ... We show that the Beringian founding population gained many unique alleles during its isolation, and that these alleles are ...
https://www.nature.com/articles/s41598-022-08212-1?error=cookies_not_supported&code=f93afa37-047e-4ce4-95db-c12956fc4257
MGI Allele SummaryMGI Allele Summary
The Allele Frequency Net Database [HLA Frequency Distribution]The Allele Frequency Net Database [HLA Frequency Distribution]
2022 Allele Frequencies Website. Allele frequency net database (AFND) 2020 update: gold-standard data classification, open ... Note: Only a maximum of 40 pops with the highest frequencies for this allele are shown for each geographical region. ...
http://allelefrequencies.net/hla6008a.asp?hla_allele=B
ITGA6 wt Allele | Semantic ScholarITGA6 wt Allele | Semantic Scholar
This allele, which encodes integrin alpha-6 protein, is involved in cell-matrix adhesion. Mutation of the gene is associated ... Human ITGA6 wild-type allele is located in the vicinity of 2q31.1 and is approximately 79 kb in length. ... Human ITGA6 wild-type allele is located in the vicinity of 2q31.1 and is approximately 79 kb in length. This allele, which ... ITGA6 wt Allele. Known as: ITGA6B, CD49f, Integrin, Alpha-6 Gene Expand. ...
https://www.semanticscholar.org/topic/ITGA6-wt-Allele/1049959
Distribution of D1S80 Alleles and Their Tsp509I Subtypes in Romanian PopulationDistribution of D1S80 Alleles and Their Tsp509I Subtypes in Romanian Population
Estimating genome-wide copy number using allele-specific mixture modelsEstimating genome-wide copy number using allele-specific mixture models
... J Comput Biol. 2008 Sep;15(7):857-66. doi: 10.1089/cmb. ... to motivate and fit models for the conditional distribution of the observed intensities given allele-specific copy number. We ...
https://pubmed.ncbi.nlm.nih.gov/18707534/
Parkin mutations and susceptibility alleles in late-onset Parkinson's disease
Parkin mutations and susceptibility alleles in late-onset Parkinsons disease Journal Article Overview abstract * Parkin, an E2 ... act as susceptibility alleles for late-onset form of Parkinson disease. ...
https://www.healthpartners.com/knowledgeexchange/display/document-rn18516
Plus itPlus it
Allele-Specific QTL Fine-Mapping with PLASMA. Austin T. Wang, Anamay Shetty, Edward OConnor, Connor Bell, Mark M. Pomerantz, ... In addition to traditional QTLs by association, allele-specific (AS) QTLs are a powerful measure of cis-regulation that are ... PopuLation Allele-Specific MApping), a novel, LD-aware method that integrates QTL and asQTL information to fine-map causal ...
https://www.biorxiv.org/content/10.1101/650242v1
Antioxidant Response Might Explain Protective Tau Allele | ALZFORUMAntioxidant Response Might Explain Protective Tau Allele | ALZFORUM
... these SNPS are often not the risk allele, but are merely inherited with the risk alleles themselves because they lie very close ... About 24 percent of Europeans carry at least one H2 allele. Previous studies found that it not only increases tau levels, it ...
https://www.alzforum.org/news/research-news/antioxidant-response-might-explain-protective-tau-allele
Molecular Heterosis for Heat-Sensitive Enzyme Alleles - NASA/ADSMolecular Heterosis for Heat-Sensitive Enzyme Alleles - NASA/ADS
Studies of several genetic crosses between strains with different heat-sensitivity alleles showed that the F,SUB,1,/SUB, ... Studies of several genetic crosses between strains with different heat-sensitivity alleles showed that the F1 retained more in ...
https://ui.adsabs.harvard.edu/abs/1974PNAS...71.1808S
Figure 2 - Nationwide Monitoring for Plasmodium falciparum Drug-Resistance Alleles to Chloroquine, Sulfadoxine, and...
Nationwide Monitoring for Plasmodium falciparum Drug-Resistance Alleles to Chloroquine, Sulfadoxine, and Pyrimethamine, Haiti, ... Nationwide Monitoring for Plasmodium falciparum Drug-Resistance Alleles to Chloroquine, Sulfadoxine, and Pyrimethamine, Haiti, ...
https://wwwnc.cdc.gov/eid/article/26/5/19-0556-f2
Genomic landscape of human allele-specific DNA methylation | RTIGenomic landscape of human allele-specific DNA methylation | RTI
... an epigenomic state across generations and differentially marking specific regulatory regions on maternal and paternal alleles ... Fang, F., Hodges, E., Molaro, A., Dean, M., Hannon, G. J., & Smith, A. D. (2012). Genomic landscape of human allele-specific ... We present a statistical model to describe allele-specific methylation (ASM) in data from high-throughput short-read bisulfite ... an epigenomic state across generations and differentially marking specific regulatory regions on maternal and paternal alleles ...
https://www.rti.org/publication/genomic-landscape-human-allele-specific-dna-methylation
EvC Forum: Reduction of Alleles by Natural Selection (Faith and ZenMonkey Only) Message ListEvC Forum: Reduction of Alleles by Natural Selection (Faith and ZenMonkey Only) Message List
Reduction of Alleles by Natural Selection (Faith and ZenMonkey Only) Message List ... Reduction of Alleles by Natural Selection (Faith and ZenMonkey Only). Key: Answered, Noted, Unanswered. Originator: Blue Jay, ... Re: You cant make a healthy allele out of a sick mutation (Message 36). By Blue Jay 04-08-2010 12:25 PM ... Re: You cant make a healthy allele out of a sick mutation (Message 36). By Blue Jay 04-08-2010 12:25 PM ...
https://www.evcforum.net/Threads.php?control=tmi&t=14351
New FISH Approach Quantifies Allele-specific Expression in Cell Populations, Single Cells | GenomeWebNew FISH Approach Quantifies Allele-specific Expression in Cell Populations, Single Cells | GenomeWeb
New FISH Approach Quantifies Allele-specific Expression in Cell Populations, Single Cells Aug 06, 2013 , staff reporter ... "These results demonstrate that our method is applicable to introns, enabling us to measure allele- specific transcriptional ... particularly for measuring allele-specific gene expression in single cells and single molecules," Raj and his colleagues noted ... our method has the potential to provide insights into allele-specific effects in gene expression," Raj and his colleagues added ...
https://www.genomeweb.com/archive/new-fish-approach-quantifies-allele-specific-expression-cell-populations-single
Cross-Fertilization Experiment: Dominant vs. Recessive Alleles | Pearson+ ChannelsCross-Fertilization Experiment: Dominant vs. Recessive Alleles | Pearson+ Channels
Cross-Fertilization Experiment: Dominant vs. Recessive Alleles
https://www.pearson.com/channels/biology/asset/92161b3b
Percentage alleles at ETR-A and ETR-B VNTR loci for randomly selected isolates - data.gov.uk
Diversity of alleles at the ETR-A and ETR-B VNTR loci for over 55000 randomly selected isolates of bovine tuberculosis (bTB) ... Download Resource locator , Format: N/A, Dataset: Percentage alleles at ETR-A and ETR-B VNTR loci for randomly selected ... Percentage alleles at ETR-A and ETR-B VNTR loci for randomly selected isolates ... Percentage alleles at ETR-A and ETR-B VNTR loci for randomly ... ...
https://www.data.gov.uk/dataset/18eabf6e-8109-4c18-8923-8c8ac1ce30c9/percentage-alleles-at-etr-a-and-etr-b-vntr-loci-for-randomly-selected-isolates
Effect of busulfan on JAK2V617F allele burden | Haematologica Effect of busulfan on JAK2V617F allele burden | Haematologica
JAK2V617F allele burden is reduced by busulfan therapy: a new observation using an old drug. Haematologica. 2013; 98(11):e135-7 ... We read with interest the paper from Kuriakose et al.1 regarding the dramatic decrease of JAK2V617F allele burden (AB) observed ... We conclude that not all patients who had undergone BU therapy have a significant decrease in JAK2V617F allele burden. We ... Kuriakose E, Vandris K, Wang YL, Chow W, Jones A, Christos P. Decrease in JAK2V617F allele burden is not a prerequisite to ...
https://haematologica.org/article/view/6985
Allele Parking | SpotHeroAllele Parking | SpotHero
Reserve Allele parking through SpotHero. Find, book & save on parking using SpotHero with convenient garages, lots & valets ... ensuring you have a space waiting for you when you get to Allele. ...
https://spothero.com/destination/boston/allele-parking
Frontiers | Overlap Between Apolipoprotein Eε4 Allele and Slowing Gait Results in Cognitive ImpairmentFrontiers | Overlap Between Apolipoprotein Eε4 Allele and Slowing Gait Results in Cognitive Impairment
Although apolipoprotein E polymorphism ε4 allele (ApoE4) and slow gait are well-known risk factors for cognitive impairment, ... Although apolipoprotein E polymorphism ε4 allele (ApoE4) and slow gait are well-known risk factors for cognitive impairment, ... Overlap Between Apolipoprotein Eε4 Allele and Slowing Gait Results in Cognitive Impairment. Ryota Sakurai1,2*, Yutaka Watanabe3 ... A longitudinal study using MCI patients indicated that having the ApoE4 allele was associated with both future decline in gait ...
https://www.frontiersin.org/articles/10.3389/fnagi.2019.00247/full
Ethyl Alcohol Craving and the G Allele Of Mu-opioid Receptor GeneEthyl Alcohol Craving and the G Allele Of Mu-opioid Receptor Gene
Participants were either homozygous for the A allele (n=84) or carrying at least one copy of the G allele (n=24). All ... It turns out that G allele carriers do crave significantly more for alcohol after alcohol exposure, compared with the A allele ... "Not only did G allele carriers report even significantly more craving for alcohol than the A allele individuals," said van den ... alcoholics with the G allele who are trying to remain abstinent may have more difficulty than alcoholics without the G allele ...
https://www.opioids.com/alcohol/mu.html
The tau gene A0 allele and progressive supranuclear palsy | NeurologyThe tau gene A0 allele and progressive supranuclear palsy | Neurology
The tau gene A0 allele and progressive supranuclear palsy. J. Hoenicka, M. Pérez, J. Pérez-Tur, A. Barabash, M. Godoy, L. Vidal ... The tau gene A0 allele and progressive supranuclear palsy. J. Hoenicka, M. Pérez, J. Pérez-Tur, A. Barabash, M. Godoy, L. Vidal ...
https://n.neurology.org/content/53/6/1219.full
Should Allele Testing Be Done Before Prescribing Allopurinol to Prevent Severe Cutaneous Adverse Reactions? | AAFPShould Allele Testing Be Done Before Prescribing Allopurinol to Prevent Severe Cutaneous Adverse Reactions? | AAFP
Moderate evidence supports allele testing for HLA-B*58:01 before initiating allopurinol to decrease the incidence of SCARs in ... Moderate evidence supports allele testing for HLA-B*58:01 before initiating allopurinol to decrease the incidence of SCARs in ... One of the 39 HLA-B*58: 01 allele-positive and 52 of the negative patients withdrew consent or were lost to follow-up. None of ... Should allele testing be done before prescribing allopurinol to prevent severe cutaneous adverse reactions (SCARs) such as ...
https://www.aafp.org/pubs/afp/issues/2021/1100/p513.html
BaalChIP: Bayesian analysis of allele-specific transcription factor binding in cancer genomesBaalChIP: Bayesian analysis of allele-specific transcription factor binding in cancer genomes
A value between 0.5 and 1 denotes a bias to the reference allele, and a value between 0 and 0.5 a bias to the alternate allele ... slot of a BaalChIP object and compute the read coverage at each allele. Allele counts are computed using the pileup. function ... reads carrying the reference allele (plus and minus strand), and reads carrying the alternative allele (plus and minus strand ... biases towards the reference allele, and most importantly, differences in allele frequencies due to copy number changes (Figure ...
https://bioconductor.org/packages/release/bioc/vignettes/BaalChIP/inst/doc/BaalChIP.html
Efficient Allele Fitness Assignment with Self-organizing Multi-agent SystemEfficient Allele Fitness Assignment with Self-organizing Multi-agent System
This method is inefficient because an allele will get credit for the contribution of all the other alleles as well. Accurately ... Even though each gene has its own evaluation function, through the process of self-organization a set of compatible alleles can ... Typically a single evaluation function is used for the entire chromosome, implicitly giving each allele in the chromosome the ... inproceedings{agogino:gecco04ws, title={Efficient Allele Fitness Assignment with Self-organizing Multi-agent System}, author={ ...
https://nn.cs.utexas.edu/?agogino:gecco04ws
Chemokine Receptor 5 Δ32 Allele in Patients with Severe Pandemic (H1N1) 2009 - Volume 16, Number 10-October 2010 - Emerging...
Mulherin SA, OBrien TR, Ioannidis JP, Goedert JJ, Buchbinder SP, Coutinho RA, Effects of CCR5-delta32 and CCR2-64I alleles on ... overall allele frequency for white patients was 27.8%. Among the 5 who were heterozygous for the CCR5Δ32 allele, 1 died, 1 ... The CCR5Δ32 allele was not found in the nonwhite patients, but it was found in 5 of the 9 white patients (Figure); ... Wild-type CCR5 DNA results in a 197-bp product, but the Δ32 allele results in a 165-bp product. The genotype was determined by ...
https://wwwnc.cdc.gov/eid/article/16/10/10-0108_article
Sampling for Microsatellite-Based Population Genetic Studies: 25 to 30 Individuals per Population Is Enough to Accurately...Sampling for Microsatellite-Based Population Genetic Studies: 25 to 30 Individuals per Population Is Enough to Accurately...
One of the most common questions asked before starting a new population genetic study using microsatellite allele frequencies ... Alleles Is the Subject Area "Alleles" applicable to this article? Yes. No. ...
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0045170
The Allele Frequency Net Database [Publication Details]The Allele Frequency Net Database [Publication Details]
2022 Allele Frequencies Website. Allele frequency net database (AFND) 2020 update: gold-standard data classification, open ... C. Demanet* and S. Verheyden KIR Allele Frequencies in a Belgium Population. Human Immunology 2004 65 (9): 864-865 ...
http://allelefrequencies.net/pop6001c.asp?pop_id=1550
Longitudinal white matter and cognitive development in pediatric carriers of the apolipoprotein ε4 alleleLongitudinal white matter and cognitive development in pediatric carriers of the apolipoprotein ε4 allele
... . ... Longitudinal white matter and cognitive development in pediatric carriers of the apolipoprotein ε4 allele ... Longitudinal white matter and cognitive development in pediatric carriers of the apolipoprotein ε4 allele. NeuroImage, 222, ...
https://www.waisman.wisc.edu/publications/longitudinal-white-matter-and-cognitive-development-in-pediatric-carriers-of-the-apolipoprotein-%CE%B54-allele/

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