Alleles
Genotype
Gene Frequency
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
Mutation
Genetic Predisposition to Disease
Phenotype
Haplotypes
Heterozygote
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.
Base 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
Linkage Disequilibrium
Microsatellite Repeats
Genetic Markers
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
Crosses, Genetic
Polymorphism, Restriction Fragment Length
Models, Genetic
Genetics, Population
Sequence Analysis, DNA
Amino Acid Sequence
Pedigree
Genetic Linkage
Genetic Association Studies
Asian Continental Ancestry Group
Exons
DNA Primers
HLA-DQ Antigens
HLA-DR 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
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
European Continental Ancestry Group
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.
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
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
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
Gene Deletion
Mutation, Missense
Promoter Regions, Genetic
Risk Factors
Genome-Wide Association Study
Introns
Cloning, Molecular
Saccharomyces cerevisiae
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
Genetic Testing
HLA Antigens
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.
Mutagenesis
Evolution, Molecular
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
Genes
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
Transcription Factors
Dinucleotide Repeats
HLA-C Antigens
Class I human histocompatibility (HLA) antigens encoded by a small cluster of structural genes at the C locus on chromosome 6. They have significantly lower immunogenicity than the HLA-A and -B determinants and are therefore of minor importance in donor/recipient crossmatching. Their primary role is their high-risk association with certain disease manifestations (e.g., spondylarthritis, psoriasis, multiple myeloma).
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
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
Zea mays
Sequence Homology, Amino Acid
Genes, MHC Class II
Trinucleotide Repeats
Genes, Suppressor
Drosophila Proteins
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
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.
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 Text
alleles definition biology
The dominant paradigm for the evolution of mutator alleles in bacterial | MEK inhibitors activate Wnt signalling
A SYSTEMATIC REVIEW ON THE INFLUENCE OF HLA-B POLYMORPHISMS ON HIV-1 MOTHER-TO-CHILD-TRANSMISSION | The Brazilian Journal of...
Effect of human leukocyte antigen heterozygosity on infectious disease outcome: The need for allele-specific measures | BMC...
HLA typing in a Kenyan cohort identifies novel class I alleles that restrict cytotoxic T-cell responses to local HIV-1 clades. ...
alleles meaning in marathi
Apoe epsilon4 allele frequency in patients with dementia in different ethnic and geographic groups
Identification of a novel HLA-Cw*05 allele, Cw*0503<...
Multiple alleles legal definition of Multiple alleles
Sup-1 x-ray induced allele
Genetic Susceptibility Associated with Rare HRAS1 Variable Number of Tandem Repeats Alleles in Spanish Non-Small Cell Lung...
Genome‐wide allele‐ and strand‐specific expression profiling | Molecular Systems Biology
Transmission of Haplotypes of Microsatellite Markers Rather Than Single Marker Alleles in the Mapping of a Putative Type 1...
Allele - Wikipedia
wk2 - Application to Punnett Square IV Inheritance Patterns Allelic Interactions Name Description ratio*adds to*seen in Example...
Stepwise mutation model - Wikipedia
UniProtKB/SwissProt variant VAR 082328
A robust approach to identifying tissue-specific gene expression regulatory variants using personalized human induced...
Changes in impact of HLA class I allele expression on HIV-1 plasma virus loads at a population level over time - Koga - 2010 -...
Bio::Variation::Allele - search.cpan.org
Genome-wide allele frequencies
Welcome to CDC stacks | Single nucleotide variants in metastasis-related genes are associated with breast cancer risk, by lymph...
Plus it
Hardy-Weinberg Equilibrium
Recessive allele - Conservapedia
Requirements for Driving Antipathogen Effector Genes into Populations of Disease Vectors by Homing | Genetics
Type 1 diabetes susceptibility determined by HLA alleles and CTLA-4 and insulin genes polymorphisms in Brazilians
League of Reason • View topic - Prove an interpretation?
Evolutionary origins of retroposon lineages of Mhc class II Ab alleles<...
Allele Frequency Community
Allele-Specific Regulation of Matrix Metalloproteinase-7 Promoter Activity Is Associated With Coronary Artery Luminal...
Genetic polymorphism within HLA-A*02: significant allelic variation revealed in different populations. - Immunology
Haplotypes: the joint distribution of alleles at linked loci. - Lancaster EPrints
The immune response to HIV: The interplay between virus and host genetic factors - Murdoch Research Repository
Frontiers | Identification of Subject-Specific Immunoglobulin Alleles From Expressed Repertoire Sequencing Data | Immunology
أجريس
Salmon Run: February 2015
Fixed allele | Article about fixed allele by The Free Dictionary
diabetes
Triablogue: Venemas Genesis and the Genome
Genetic diversity on squirrels - Biology-Online
Plus it
Dataset containing all HLA class I alleles
Hitchhikers Guide to the Galaxy on Genotype
genetics - Is bi-allelic gene expression random? - Biology Stack Exchange
Biology-Online • View topic - cell specific markers
The Renaissance Biologist: June 2008
THU0108 Associations Between TRAF1-C5 Gene Polymorphisms and Rheumatoid Arthritis: A Meta-Analysis | Annals of the Rheumatic...
Download Free Biology Books: Gene Mapping, Discovery, And Expression: Methods And Protocols (Methods in Molecular Biology, Vol...
Pseudodeficiency 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 ...
Infinite 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 ...
Allele
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, ...
Allele 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 ...
Lethal 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 ...
Allele 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 ...
Fixed 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 ...
Null 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 ...
Allele-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 ...
Allele 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 ...
Minor 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 ...
Kompetitive 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 ...
Allele 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 ...
Earth 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. ...
List 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 ...
Genome 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 ...
Human genetic enhancement
"Protective alleles". arep.med.harvard.edu. Retrieved 25 July 2021. (CS1 maint: bot: original URL status unknown, CS1: long ...
Mothers 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 ( ...
Phenotypic 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 ...
HLA-B49
derived from IMGT/HLA Middleton D, Menchaca L, Rood H, Komerofsky R (2003). "New allele frequency database: http://www. ...
HLA-B56
derived from IMGT/HLA Middleton, D.; Menchaca, L.; Rood, H.; Komerofsky, R. (2003). "New allele frequency database: http://www. ...
HLA-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 ...
HLA-B22
HLA-B alleles). ...
HLA-B54
derived from IMGT/HLA Middleton, D.; Menchaca, L.; Rood, H.; Komerofsky, R. (2003). "New allele frequency database: http://www. ...
HLA-B60
HLA-B alleles). ...
HLA-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- ...
HLA-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 ...
HLA-B16
HLA-B alleles). ...
HLA-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 ...
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 ...
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) - Submitter - ClinVar
MTHFR 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. ...
Novel 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 ...
The Allele Frequency Net Database [HLA Frequency Distribution]
ITGA6 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. ...
Estimating genome-wide copy number using allele-specific mixture models
Parkin mutations and susceptibility alleles in late-onset Parkinson's disease
Plus 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 ...
Antioxidant Response Might Explain Protective Tau Allele | ALZFORUM
Molecular Heterosis for Heat-Sensitive Enzyme Alleles - NASA/ADS
Figure 2 - Nationwide Monitoring for Plasmodium falciparum Drug-Resistance Alleles to Chloroquine, Sulfadoxine, and...
Genomic 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 ...
EvC 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 ...
New 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 ...
Cross-Fertilization Experiment: Dominant vs. Recessive Alleles | Pearson+ Channels
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 ... ...
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 ...
Allele Parking | SpotHero
Frontiers | 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 ...
Ethyl 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 ...
The tau gene A0 allele and progressive supranuclear palsy | Neurology
Should 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 ...
BaalChIP: 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 ...
Efficient 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={ ...
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 ...