Alleles. Medical search

Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.

The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.

The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.

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.

A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.

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.

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.

The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

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.

Genotypic differences observed among individuals in a population.

An individual having different alleles at one or more loci regarding a specific character.

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.

An individual in which both alleles at a given locus are identical.

The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.

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.

Any method used for determining the location of and relative distances between genes on a chromosome.

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.

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).

A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.

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.

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.

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.

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.

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.

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.

A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.

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.

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.

The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.

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.

Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.

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.

Biochemical identification of mutational changes in a nucleotide sequence.

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.

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.

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 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.

Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.

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 that influence the PHENOTYPE both in the homozygous and the heterozygous state.

Individuals whose ancestral origins are in the continent of Europe.

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 that influence the PHENOTYPE only in the homozygous state.

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.

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).

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.

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).

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.

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.

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.

Identification of genetic carriers for a given trait.

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.

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)

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.

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.

Genetic loci associated with a QUANTITATIVE TRAIT.

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.

Transmembrane proteins that form the alpha subunits of the HLA-DQ antigens.

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.

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.

The functional hereditary units of PLANTS.

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.

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.

A species of fruit fly much used in genetics because of the large size of its chromosomes.

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.

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.

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.

The functional hereditary units of FUNGI.

The relationships of groups of organisms as reflected by their genetic makeup.

Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.

A country spanning from central Asia to the Pacific Ocean.

The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.

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.

Individuals whose ancestral origins are in the continent of Africa.

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.

Deletion of sequences of nucleic acids from the genetic material of an individual.

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.

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.

Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.

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.

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 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.

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.

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.

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.

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 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.

Methods used to determine individuals' specific ALLELES or SNPS (single nucleotide polymorphisms).

A plant species of the family POACEAE. It is a tall grass grown for its EDIBLE GRAIN, corn, used as food and animal FODDER.

The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.

Proteins found in any species of fungus.

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.

Microsatellite repeats consisting of three nucleotides dispersed in the euchromatic arms of chromosomes.

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.

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.

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.

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.

Deoxyribonucleic acid that makes up the genetic material of plants.

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.

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)

Alleles[edit]. There are 71 alleles, 57 amino acid sequence variants in B51 of which 4 are nulls. Of these only 9 are frequent ... Serotypes B51, B5, B52, and B53 recognition of some HLA B*51 allele-group gene products[3] B*51. B51 B5 B52 B53. Sample ... There are a large number of alleles within the B*51 allele group. B51 is associated with several diseases, including Behçet's ... Several alleles of B51 (B*5101, B*5108, B*5105, and B*5104) are found in disease, and linkage to markers, D6S285, in the HLA ...

https://en.wikipedia.org/wiki/HLA-B51

alleles[19]. No. rare. alleles[17]. % rare. alleles[17]. No. very rare. alleles[17]. % very rare. alleles[17]. % alleles. ... alleles[19]. % common. alleles[19]. No. well-documented. alleles[19]. % well-documented. ... For example, a new allele of B44 may get a serotype (i.e. B44) and allele ID i.e. B*44:65, as it is the 65th B44 allele ... Tables of variant alleles[edit]. Number of variant alleles at class I loci according to the IMGT-HLA database, last updated ...

https://en.wikipedia.org/wiki/Human_leucocyte_antigen

Dominant and recessive alleles[edit]. An allele is said to be dominant if it is always expressed in the appearance of an ... Thus pea plants with the pair of alleles either GG (homozygote) or Gg (heterozygote) will have green pods. The allele for ... DNA sequences can change through mutations, producing new alleles. If a mutation occurs within a gene, the new allele may ... For example, in peas the allele for green pods, G, is dominant to that for yellow pods, g. ...

https://en.wikipedia.org/wiki/Biological_inheritance

Alleles and effects[edit]. Locus Alleles Effect of combined pairs of alleles ... Geneticists symbolize this allele of the E gene E. The alternative allele to E is e. Allele e allows black pigment in the skin ... The dominant D allele is relatively rare compared to the alternative d allele, and for this reason, the dominant allele is ... Alternate forms of a gene are called alleles.[3] The terms Alleles and Modifiers are used interchangeably and describe the same ...

https://en.wikipedia.org/wiki/Equine_coat_color_genetics

The abt allele is recessive to the wild type allele, and the Ay allele is codominant to the wild type allele. The Ay allele is ... Thus, the A allele is dominant to the B allele with respect to PKU, but the B allele is incompletely dominant to the A allele ... Thus, allele R is completely dominant to allele r, and allele r is recessive to allele R. ... Thus, allele R is dominant over allele r, and allele r is recessive to allele R. ...

https://en.wikipedia.org/wiki/Dominant_trait

"Mini-muscle" allele[edit]. A gene recently discovered in laboratory house mice, termed "mini-muscle", causes a 50% reduction in ... A study on seed beetles found that intralocus sexual conflict arises when selection for certain alleles of a gene that are ... Pleiotropy can have an effect on the evolutionary rate of genes and allele frequencies. Traditionally, models of pleiotropy ... The mini-muscle allele behaves as a Mendelian recessive gene.[10] The mutation is a single nucleotide polymorphism (SNP) in an ...

https://en.wikipedia.org/wiki/Pleiotropic

Allele-specific oligonucleotide[edit]. Main article: Allele-specific oligonucleotide. Allele-specific oligonucleotide (ASO) is ...

https://en.wikipedia.org/wiki/Molecular_biology

Suppose that half the bacteria have allele A and the other half have allele B. Thus A and B each have allele frequency 1/2. ... Once an allele becomes fixed, genetic drift comes to a halt, and the allele frequency cannot change unless a new allele is ... An individual can have two copies of the same allele or two different alleles. We can call the frequency of one allele p and ... Rate of allele frequency change due to drift[edit]. Ten simulations of random genetic drift of a single given allele with an ...

https://en.wikipedia.org/wiki/Genetic_drift

This is when the dominant allele is not completely dominant over the recessive allele. This means both the alleles have a ... Different alleles at a locus[change , change source]. There are three ways alleles at a locus may differ.[2]p6 They are: *By ... The allele that masks the other is said to be dominant to the latter, and the alternative allele is said to be recessive to the ... In other cases, both alleles contribute to the phenotype. Example[change , change source]. The inheritance of alleles, and ...

https://simple.wikipedia.org/wiki/Homozygous

Reduction of kidney size caused by variant allele[edit]. A variant human OSR1 allele which does not produce a functional ... Zhang Z, Iglesias D, Eliopoulos N, El Kares R, Chu L, Romagnani P, Goodyer P (2011). "A variant OSR1 allele which disturbs OSR1 ... Zhang Z, Iglesias D, Eliopoulos N, El Kares R, Chu L, Romagnani P, Goodyer P (November 2011). "A variant OSR1 allele which ...

https://en.wikipedia.org/wiki/OSR1

Alleles. 13. 24. 14. 11. 11. 14. 12. 12. 12. 13. 13. 29. 17. 9. 10. 11. 11. 25. 15. 19. 29. 15. 15. 17. 17. ...

https://en.wikipedia.org/wiki/Talk:Haplogroup_R-M167

Table 2. Linkage disequilibrium among HLA alleles in pan-Europeans[15] HLA-A alleles i HLA-B alleles j Δ. i. j. {\displaystyle ... of this allele is approximated by x. =. a. /. b. c. /. d. =. a. d. b. c. (. =. 39.7. ,. in Table 3 ). .. {\displaystyle x={\ ... HLA alleles B. 27. +. {\displaystyle B27^{+}}. a. =. 96. {\displaystyle a=96}. b. =. 77. {\displaystyle b=77}. C. {\ ... having allele A. 1. {\displaystyle A_{1}}. is p. 1. {\displaystyle p_{1}}. and the probability of the copy at locus B. {\ ...

https://en.wikipedia.org/wiki/Linkage_disequilibrium

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

The abt allele is recessive to the wild type allele, and the Ay allele is codominant to the wild type allele. The Ay allele is ... allele R is dominant to allele r, and allele r is recessive to allele R. This use of upper case letters for dominant alleles ... Thus, the A allele is dominant to the B allele with respect to PKU, but the B allele is incompletely dominant to the A allele ... Thus, allele R is completely dominant to allele r, and allele r is recessive to allele R. ...

https://en.m.wikipedia.org/wiki/Dominant_gene

Consider an extra allele frequency, r. The two-allele case is the binomial expansion of (p + q)2, and thus the three-allele ... Generalization for more than two alleles[edit]. Punnett square for three-allele case (left) and four-allele case (right). White ... From this, allele frequencies can be calculated: p. =. 2. ×. o. b. s. (. AA. ). +. o. b. s. (. Aa. ). 2. ×. (. o. b. s. (. AA. ... More generally, consider the alleles A1, ..., An given by the allele frequencies p1 to pn; ...

https://en.wikipedia.org/wiki/Hardy-Weinberg_principle

Other minor alleles have been found for this gene. There are six common alleles in individuals of European descent. Nearly ... The ABO locus encodes three alleles. The A allele produces α-1,3-N-acetylgalactosamine transferase (A-transferase), which ... Many rare variants of these alleles have been found in human populations around the world. In human cells, the ABO alleles and ... The O allele lacks both enzymatic activities because of the frame shift caused by a deletion of guanine-258 in the gene which ...

https://en.wikipedia.org/wiki/ABO_(gene)

The second allele is O: children are either AB or O Second allele is A: Children are either AB or A Second allele is B: ... Antigen expression is weaker than A1 or B. When one parent carries a Cis AB allele, the other allele can be any of O, A or B. ... Roubinet F1, Janvier D, Blancher A. A novel cis AB allele derived from a B allele through a single point mutation. Transfusion ... It happens when the transferase allele contains a mix of amino acids from either A or B alleles, producing a bifunctional ...

https://en.wikipedia.org/wiki/Cis_AB

Allele-specific oligonucleotideEdit. Main article: Allele-specific oligonucleotide. Allele-specific oligonucleotide (ASO) is a ...

https://en.m.wikipedia.org/wiki/Molecular_biological

If one allele dominates the instructions from another, it is called the dominant allele, and the allele that is overridden is ... In this example you can call the allele for brown "B" and the allele for red "b". (It is normal to write dominant alleles with ... Allele. The different forms of a given gene that an organism may possess. For example, in humans, one allele of the eye-color ... Mutations create new alleles. These alleles have new DNA sequences and can produce proteins with new properties.[18] So if an ...

https://en.wikipedia.org/wiki/Genetic_trait

Fischer G, Pérez-Rodríguez M, Argüello JR, Cox ST, McWhinnie A, Travers PJ, Madrigal JA (Feb 2000). "Three novel MICB alleles ... alleles". Tissue Antigens. 51 (6): 649-52. doi:10.1111/j.1399-0039.1998.tb03008.x. PMID 9694358. Steinle A, Groh V, Spies T ( ...

https://en.wikipedia.org/wiki/MHC_class_I_polypeptide-related_sequence_B

B*01 allele) and HLA show that the allele is in linkage disequilibrium with HLA-A1, Cw7, B8, C4A(Null), DR3, DQ2.5.[32] The ... A multigene haplotype is set of inherited alleles covering several genes, or gene-alleles; common multigene haplotypes are ... There is a variant of A1←→B8 found in India.[5] This variant carries the different Cw*07 (Cw*0702 is a very ancient allele that ... In Kenya two slightly variant HLA-A and B alleles for an A1-B8 haplotype. One possibility is that peoples from central Asia or ...

https://en.wikipedia.org/wiki/HLA_A1-B8-DR3-DQ2

If one allele dominates the instructions from another, it is called the dominant allele, and the allele that is overridden is ... In this example you can call the allele for brown "B" and the allele for red "b". (It is normal to write dominant alleles with ... The effects of this mixing depend on the types (the alleles) of the gene. If the father has two copies of an allele for red ... Mutations create new alleles. These alleles have new DNA sequences and can produce proteins with new properties. So if an ...

https://en.wikipedia.org/wiki/Introduction_to_genetics

is the number of alleles at the target locus, and f. i. {\displaystyle f_{i}}. is the allele frequency of the i. t. h. {\ ... For other genes, one allele may be common, and another allele may be rare. Sometimes, one allele is a disease-causing variation ... others have only one allele because deviation from that allele can be harmful or fatal. But most genes have two or more alleles ... The mutant alleles are both complete loss-of-function or 'null' alleles, so homozygous null and nullizygous are synonymous.[2] ...

https://en.wikipedia.org/wiki/Heterozygote

... "null allele" in a gel assay), thus only one allele is amplified (from the non-mutated sister chromosome), and the individual ... It may then be necessary to amplify the microsatellite using a different set of primers.[14][69] Null alleles are caused ... Null alleles in this case can sometimes be indicated by an excessive frequency of homozygotes causing deviations from Hardy- ... A particular concern is the occurrence of 'null alleles': *Occasionally, within a sample of individuals such as in paternity ...

https://en.wikipedia.org/wiki/Short_tandem_repeats

different alleles will be expressed). The zygotic genome now drives embryo development. MZT is often thought to be synonymous ...

https://en.wikipedia.org/wiki/Maternal_to_zygotic_transition

Its FlyBase designation is Dmel_emc, and its location is at 3L:749,406..753,505 [+]. 86 alleles have been reported. The Emc ...

https://en.wikipedia.org/wiki/Extramacrochaetae

The A signifies which HLA gene the allele belongs to. There are many HLA-A alleles, so that classification by serotype ... due to the diversity amongst those alleles, it is difficult to classify each and every allele's impact upon immune regulation ... In other words, every single person can only express either one or two of the 2432 known HLA-A alleles. All HLAs are assigned a ... An HLA name looks something like this: HLA-A*02:01:01:02L All alleles receive at least a four digit classification (HLA-A*02:12 ...

https://en.wikipedia.org/wiki/HLA-A

Today, we call these alleles. One allele is dominant over the other. The phenotype reflects the dominant allele. Gametes are ... These alleles may be the same or different. An organism that has two identical alleles for a gene is said to be homozygous for ... The pistil plant and the pollen plant are both F1-hybrids with genotype "B b". Each has one allele for purple and one allele ... That is, the biological selection of an allele for one trait has nothing to do with the selection of an allele for any other ...

https://en.wikipedia.org/wiki/Mendelian_inheritance

Consider an extra allele frequency, r. The two-allele case is the binomial expansion of (p + q)2, and thus the three-allele ... The allele frequencies at each generation are obtained by pooling together the alleles from each genotype of the same ... Alleles are inherited independently from each parent. A dominant allele can be inherited from a homozygous dominant parent with ... While directional selection eventually leads to the loss of all alleles except the favored one (unless one allele is dominant, ...

https://en.wikipedia.org/wiki/Hardy–Weinberg_principle

People have various ALDH2 alleles. ALDH2*1 is a common allele (wild type), but about 40% of people of East Asian ethnicity have ...

https://en.wikipedia.org/wiki/Alda-1

A gene for which at least two alleles exist is said to be polymorphic. ... Multiple Alleles Alleles are alternative forms of a gene, and they are responsible for differences in phenotypic expression of ... Multiple Alleles Genetics Copyright Genetics Society of America. Multiple Alleles. Alleles are alternative forms of a gene, and ... multiple alleles Three or more alternative forms of a gene (alleles) that can occupy the same locus. However, only two of the ...

https://www.encyclopedia.com/science-and-technology/biology-and-genetics/genetics-and-genetic-engineering/multiple-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 genes ... Because of pseudodeficiency alleles, the results of enzyme assay testing in one population cannot be generalized to other ... One possible cause of false positive results is a pseudodeficiency allele. Disease may also be present, but at a subclinical ...

https://en.wikipedia.org/wiki/Pseudodeficiency_alleles

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

Youve got to feel sorry for the female seed beetle. Whenever she mates with a male, she has to contend with his spiked, nightmarish penis (remember this picture?). And despite the damage that it inflicts, one liaison just isnt enough; female seed beetles typically mate with many males before they lay their eggs. Surely, she must benefit in some way? The most likely idea is that she somehow ensures that her eggs are fertilised by sperm from males with the "best" genes - those that either make for particularly fit and healthy young, or that are a compatible match for the females own genes.… ...

https://scienceblogs.com/tag/sexual-antagonistic-allele

These are alleles generated through high-throughput, genome-wide projects. Million Mutation Project alleles are placed in a ...

https://wormbase.org/tools/genome/gbrowse/c_elegans_PRJNA13758/?display_citation=VARIATIONS_HIGH_THROUGHPUT_ALLELES

Bio::Variation::Allele - Sequence object with allele-specific attributes. SYNOPSIS $allele1 = Bio::Variation::Allele-,new ( - ... A lot of the complexity with dealing with Allele objects are caused by null alleles; Allele objects that have zero length ... List of alleles describe known sequence alternatives in a variable region. Alleles are contained in Bio::Variation::VariantI ... Bio::Varation::Alleles are PrimarySeqI complying objects which can contain database cross references as specified in Bio:: ...

http://search.cpan.org/dist/BioPerl/Bio/Variation/Allele.pm

Find the best clips, watch programmes, catch up on the news, and read the latest Allele interviews. ...

https://www.bbc.co.uk/music/artists/e25b2bb2-78b2-4a93-9ac8-26a0572c0995

Native Americas Alleles. Arizonas Pima Indians have the worlds highest rate of diabetes, and the rest of the world is ... These markers are alleles that have accumulated in different proportions among the worlds populations. The markers usually ... Testing for a single marker doesnt tell you much about the persons background, because that one allele, whatever form it ... or alleles, have been found in Native American groups. Still, the demands of surviving in a difficult environment may have ...

https://www.discovermagazine.com/health/native-americas-alleles

I am trying to get some clarity on the concept of allele. Please let me know if my concepts are correct: Each human cell ( ... Different variants of a gene are called alleles. Thus, each individual has two alleles of every gene. These two alleles can be ... alleles, in some cases only in two. Regardless, every human being always has only two alleles, i.e. two different types of a ... Allele - member of a single gene family. For one trait there can be several sets of alleles, maybe all different, for a ...

https://www.physicsforums.com/threads/alleles-and-genes.967716/

Allele Attributes Conditional ready. Recombinase. RMCE-ready. Inserted expressed sequence. Humanized sequence. Reporter. ... Search for mutant or genetically engineered alleles, transgenes, or QTL variants by phenotype, disease, nomenclature, ...

http://www.informatics.jax.org/allele/

Activating alleles of JAK3 in acute megakaryoblastic leukemia.. Walters DK1, Mercher T, Gu TL, OHare T, Tyner JW, Loriaux M, ... Subsequent analysis identified two additional JAK3 alleles, V722I and P132T, in AMKL patients. JAK3(A572V), JAK3(V722I), and ...

https://www.ncbi.nlm.nih.gov/pubmed/16843266?dopt=Abstract

Generating rats with conditional alleles using CRISPR/Cas9.. Ma Y1, Zhang X1, Shen B2, Lu Y1, Chen W1, Ma J1, Bai L1, Huang X2 ... D) In vitro Cre/loxP-mediated recombination of the floxed Dnmt3b allele. Primers DF/DR and CF/CR were used to amplify the ... A) A schematic overview of the strategy to generate a Dnmt3a conditional allele. In the donor vector, mloxP sites are indicated ... PCR analyses of the Cre-treated samples using primers DF and DR flanking the floxed allele produced shorter products. The ...

https://www.ncbi.nlm.nih.gov/pubmed/24296780?dopt=Abstract

Allele definition, any of several forms of a gene, usually arising through mutation, that are responsible for hereditary ... In almost all animal cells, two alleles for each gene are inherited, one from each parent. Paired alleles (one on each of two ... allele. 1930-35; < German Allel, apparently as shortening of German equivalents of allelomorph or allelomorphic gene; allelo- ... allele. C20: from German Allel, shortened from allelomorph, from Greek allēl- one another + morphē form ...

https://www.dictionary.com/browse/allele

Lyrics to Chains Of Alice by Allele: Sober company to find, / As you walk into a lice / Just the token of divine, / To everyone ...

http://www.lyricsfreak.com/a/allele/chains+of+alice_21096443.html

A recessive allele is an allele that will not determine the phenotype unless the genotype is homozygous with that allele.[1] ... Examples of recessive alleles include the allele for green in the pea Pisum sativum (the subject of Gregor Mendels heredity ... Retrieved from "http://www.conservapedia.com/index.php?title=Recessive_allele&oldid=865623" ...

http://www.conservapedia.com/Recessive_allele

... all allele pairs of a genotype). An allele combination can be composed of one or more allele pairs. ... A designation of the specific alleles present on the two homologous chromosomes for all relevant loci of a mouse (i.e., ...

http://www.informatics.jax.org/glossary/allele_combination

OMIM Alleles Variants in the OMIM database that have associated dbSNP identifiers. OMIM Genes The genomic positions of gene ...

http://genome.ucsc.edu/cgi-bin/hgTrackUi?hgsid=802722249_oWKuLTGLMNabB8z5VaNBa4fnYHsU&c=chr8&g=omimAvSnp

Taking into consideration the genotypes of parents and progenies, the segregation of PRNP 6 and PRNP 5 alleles was analysed. ... Further investigations are carried out to explain the genetic determination of abnormal PRNP octa-peptide repeat allele ... Taking into consideration the genotypes of parents and progenies, the segregation of PRNP 6 and PRNP 5 alleles was analysed. ... Abnormal segregation of prion protein octapeptiderepeat alleles in cattle},. journal = {J. Applied Genet},. year = {}. }. ...

http://citeseer.ist.psu.edu/viewdoc/summary?doi=10.1.1.1054.2821

An analysis is presented of data collected by the Federal Bureau of Investigation at six unlinked variable number of tandem repeats (VNTR) loci for the United States population. Databases have been constructed of VNTR profiles of Caucasians, Blacks and Hispanics from Florida, Texas and California. There was very little evidence for correlations between lengths for pairs of VNTR fragments, within or between loci. When the fragment lengths were amalgamated into discrete bins, there was also little evidence for disequilibrium over all genotypes, within or between loci, for the Caucasian database, although some disequilibrium was found for the Black and Hispanic databases. No disequilibrium was found for the Caucasian or Black databases when tests were confined to heterozygous individuals. In cases of global disequilibrium, local tests can be applied to specific genotypes. The results suggest that, at the bin level, frequencies of VNTR profiles can generally be estimated as the products of the ...

https://www.genetics.org/content/130/4/873

Subject: Are allele combinations determined by chance?. Date: Thu Feb 14 09:26:20 2002. Posted by maria. Grade level: undergrad ... Re: Are allele combinations determined by chance? Current Queue , Current Queue for Genetics , Genetics archives Try the links ...

http://www.madsci.org/posts/archives/2002-02/1014325605.Ge.q.html

Pedigree Flockmasters with rams carrying alleles which fall in categories two, three, four and five of the National Scapie Plan ... SEMEN ARCHIVES EYES ALLELES CARRIERS. PEDIGREE FLOCKMASTERS with rams carrying alleles which fall in categories two, three, ... with 400 semen doses representing each susceptible allele from 11 main breeds and 100 semen doses of each allele for every ... Semen Archive breed liason manager Simon Farmer says the archive is interested in collecting the alleles that make up ...

http://www.fwi.co.uk/livestock/semen-archives-eyes-alleles-carriers.htm

Redirected from Alleles). An allele (/əˈliːl/)[1][2] is a variant form of a given gene.[3] Sometimes, different alleles can ... With three alleles: p. +. q. +. r. =. 1. {\displaystyle p+q+r=1\,}. and. p. 2. +. q. 2. +. r. 2. +. 2. p. q. +. 2. p. r. +. 2. ... Main article: Allele frequency. The frequency of alleles in a diploid population can be used to predict the frequencies of the ... where p is the frequency of one allele and q is the frequency of the alternative allele, which necessarily sum to unity. Then, ...

https://en.m.wikipedia.org/wiki/Alleles

HIV disease in people with the B*3503 allele progresses significantly faster than it does in people with the B*3501 allele. ... HLA-B35 Alleles and AIDS. This study has been withdrawn prior to enrollment. ... We have previously shown that individuals with B*35 Px alleles progress at a significantly faster rate compared to those with B ... These data will be useful in explaining the difference in disease progression between individuals possessing B*35 Px alleles ...

https://clinicaltrials.gov/show/NCT00340223?order=513

x,y) is the target site configuration for the two-gRNA drive (one site has allele x, and the other has allele y, regardless of ... n.o., not observed; r, r1 or r2 allele. *The fraction above the black bar specifies those resistance alleles in the two-gRNA ... Lower shows the genotype conversion rates in embryos that inherited a D allele from their mother and a + allele from their ... ii) Nearly all remaining wild-type alleles will be converted to drive alleles before meiosis. (iii) Meiosis then takes place, ...

https://www.pnas.org/content/115/21/5522/tab-figures-data

Reducing resistance allele formation in CRISPR gene drive. Jackson Champer, Jingxian Liu, Suh Yeon Oh, Riona Reeves, Anisha ... Reducing resistance allele formation in CRISPR gene drive. Jackson Champer, Jingxian Liu, Suh Yeon Oh, Riona Reeves, Anisha ... Reducing resistance allele formation in CRISPR gene drive. Jackson Champer, Jingxian Liu, Suh Yeon Oh, Riona Reeves, Anisha ... CRISPR homing gene drives can convert heterozygous cells with one copy of the drive allele into homozygotes, thereby enabling ...

http://www.pnas.org/content/early/2018/05/04/1720354115

At a separate gene, the allele sb gives stubby legs while wildtype sb+ allele gives normal legs. At a third gene, the allele w ... Order of alleles. Add. Remove. This content was COPIED from BrainMass.com - View the original, and get the already-completed ... In Drosophila melanogaster, the allele n gives notched wings while the wildtype allele n+ gives normal wings. ... Is the dominant allele the one that occurs most often?. Ive included the queston as an attachment.. Thanks. ...

https://brainmass.com/biology/genetics/order-of-alleles-388601

By contrast, the risk allele for SNCA-Rep1 had no effect on expression. Further analysis revealed that the rs356168 risk allele ... The paper showcases how CRISPR/Cas9 can help validate risk alleles in disease. A second paper in the same issue, by David Liu ... In addition, the scientists wanted to control whether Cas9 modulated one or two copies of an allele in the cell. The enzyme ... Researchers have begun using the system to test the function of disease risk alleles identified in GWAS. Most GWAS hits turn up ...

https://www.alzforum.org/news/research-news/crispr-verifies-risk-alleles-improves-gene-editing

Good Mothers and Short Alleles JW-Psychiatry is almost an essential read for me and a subscription (about $120) gives you ... between maternal involvement and the serotonin-receptor 2A allele.. -- Barbara Geller, MD. Published in Journal Watch ... Nasty mothers have short alleles for managing serotonin and so do their offspring. Insert a competent mother and hyperactive, ... with the high-risk serotonin-transporter allele (Journal Watch Psychiatry Jan 12 2005). The current results provide another ...

https://www.behavior.net/bolforums/showthread.php?p=4811&mode=threaded

Tightrope lyrics by Allele: You never ask if Im ok / The knife in my wrist will take your place / Youre slipping farther away ... Allele - Tightrope lyrics. You never ask if Im ok. The knife in my wrist will take your place. Youre slipping farther away ... Lyrics taken from http://www.lyricsmode.com/lyrics/a/allele/tightrope.html ...

http://www.lyricsmode.com/lyrics/a/allele/tightrope.html

It is important to note that while multiple alleles occur and are maintained within a population, any individual possesses only two such alleles (at equivalent loci on homologous chromosomes). (encyclopedia.com)
Multiple alleles and noncoding polymorphic DNA are of considerable importance in gene mapping - identifying the relative positions of genetic loci on chromosomes. (encyclopedia.com)
Multiple alleles for one trait can be found at separate places, on different chromosomes. (physicsforums.com)
It is now appreciated that most or all gene loci are highly polymorphic, with multiple alleles, whose frequencies vary from population to population, and that a great deal of genetic variation is hidden in the form of alleles that do not produce obvious phenotypic differences. (wikipedia.org)
A population or species of organisms typically includes multiple alleles at each locus among various individuals. (wikipedia.org)
We consider the plant genetic improvement challenge of introgressing multiple alleles from a homozygous donor to a recipient. (genetics.org)
have been proposed as approaches for introgressing multiple alleles from unadapted landraces into elite cultivars. (genetics.org)
We apply the PCV to the process of introgressing multiple alleles from a single homozygous donor. (genetics.org)
However, rather than applying the metric to RILs derived from a single cross, we apply it to any arbitrary set of progeny derived from crosses in multiple generations which is required for introgressing multiple alleles from a donor. (genetics.org)
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 produce proteins with identical properties: more than 70 alleles are known at the ABO locus. (primidi.com)
It recognizes that genes are discrete entities through which characteristics are inherited and the existence of multiple alleles of a gene is responsible for variation within a population. (thefreedictionary.com)
Studies in mammals, including humans (9), birds (10), and medaka (11), support the existence of a single locus of the gene, although the presence of multiple alleles has been reported in pigs (12) and goldfish (13). (thefreedictionary.com)
multiple alleles alleles of which there are more than two alternative forms possible at any one locus. (thefreedictionary.com)

The most striking feature of HLA genes is their high degree of polymorphism - there may be as many as one hundred different alleles at a single locus. (encyclopedia.com)
The letters in this alphabet are just 4: A,C,G,T. Does that mean that the position (locus) of a sentence (gene) in the chapter (chromosome) attributes a specific task (determines a specific physical trait) to that sentence even if the words in that sentence are different (codons, allele)? (physicsforums.com)
Alleles are in a specific locus (place) on a specific chromosome. (physicsforums.com)
If both alleles at a gene (or locus ) on the homologous chromosomes are the same, they and the organism are homozygous with respect to that gene (or locus). (wikipedia.org)
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. (wikipedia.org)
Allelic variation at a locus is measurable as the number of alleles ( polymorphism ) present, or the proportion of heterozygotes in the population. (wikipedia.org)
For example, at the gene locus for the ABO blood type carbohydrate antigens in humans, [7] classical genetics recognizes three alleles, I A , I B , and i, that determine compatibility of blood transfusions . (wikipedia.org)
Crow and Kimura showed that at equilibrium conditions, for a given strength of selection (s), that there would be an upper limit to the number of fitter alleles (polymorphisms) that a population could harbor for a particular locus. (wikipedia.org)
a Sequence comparison of a 610(bp) region associated with the 141 or 143 allele of SSR marker SC8-0071-014 that cosegregates with the Ren1 locus. (nature.com)
Evidence for a new type of O allele at the ABO locus, due to a combination of the A2 nucleotide deletion and the Ael nucleotide insertion. (google.com)
Molecular analysis of the O alleles at the blood group ABO locus in populations of different ethnic origin reveals novel crossing-over events and point mutations. (google.com)
Heterogeneity of the O alleles at the blood group ABO locus in Amerindians. (google.com)
An Ael allele-specific nucleotide insertion at the blood group ABO locus and its detection using a sequence-specific polymerase chain reaction. (google.com)
Although the recessive allele (a) in the A locus can lead to black genotyped sheep, the dominant allele ([E. (thefreedictionary.com)
Homozygous locus is indistinguishable from a heterozygous one when a dominant allele is involved. (thefreedictionary.com)
taylori) did not have enough data to calculate null allele frequencies Subspecies Locus n [n. (thefreedictionary.com)
An allele ( pronounced /əˈliːl/ (US), /ˈæliːl/ (UK) ) is a viable DNA (deoxyribonucleic acid) coding that occupies a given locus (position) on a chromosome . (bionity.com)
An allele is a form of a gene at a particular position ( locus ) on a chromosome . (wikipedia.org)
Since such organisms have two sets of chromosomes, they have (except on the sex chromosomes ) two alleles at each gene locus . (wikipedia.org)
There are three ways alleles at a locus may differ. (wikipedia.org)
Alleles differ by origin if they come from the same locus on different chromosomes. (wikipedia.org)
Thus, for example, the two alleles at a particular locus in a diploid individual are always different by origin. (wikipedia.org)
The segregation distortion of the four SNPs in linkage disequilibrium with the Sugary1 locus for the RILs released from B73 × IL14h, all SNPs were skewed towards the A allele (from B73) in the non-sweet corn RILs and towards the C allele (from IL14h) in the sweet corn RILs. (springer.com)
An allele ( /ˈæliːl/ or /əˈliːl/) is one of two or more forms of a gene or a genetic locus (generally a group of genes). (primidi.com)
Our empirical analyses of ultraconserved element locus data collected from the South American hummingbird genus Topaza demonstrate that phased allele sequences carry sufficient phylogenetic information to infer the genetic structure, lineage divergence, and biogeographic history of a genus that diversified during the last 3 myr. (gu.se)
Thus, humans are designed for two, only two, and no more than two alleles at each locus. (madsci.org)
An allele is an alternative form of a nucleotide sequence, a gene or a locus in the genome. (vectorbase.org)
two different alleles at a locus are responsible for different phenotypes . (biology-online.org)
If the same allele occupies both units of the locus, the individual or cell is homozygous for this allele. (thefreedictionary.com)
the presence of two different alleles on the same locus are heterozygous. (thefreedictionary.com)
Licínio Manco , Laura R. Botigué , M. Letícia Ribeiro , and Augusto Abade "G6PD Deficient Alleles and Haplotype Analysis of Human G6PD Locus in São Tomé e Príncipe (West Africa)," Human Biology 79(6), 679-686, (1 December 2007). (bioone.org)

A recessive allele is an allele that will not determine the phenotype unless the genotype is homozygous with that allele. (conservapedia.com)
It was formerly thought that most individuals were homozygous for the "wild type" allele at most gene loci, and that any alternative "mutant" allele was found in homozygous form in a small minority of "affected" individuals, often as genetic diseases , and more frequently in heterozygous form in " carriers " for the mutant allele. (wikipedia.org)
The Japanese geneticist Motoo Kimura and American geneticist James F. Crow (1964) introduced the infinite alleles model, an attempt to determine for a finite diploid population what proportion of loci would be homozygous. (wikipedia.org)
Beyond this number of alleles, the selective advantage of presence of those alleles in heterozygous genotypes would be cancelled out by continual generation of less fit homozygous genotypes. (wikipedia.org)
Population genetics statistics of polymorphism sites in LPL gene from different goats: Population genetics analysis showed that five genotypes were detected in 6 goat populations in the P1 site, in which BB genotype is homozygous dominant, allele B is the dominant allele (Table 2). (thefreedictionary.com)
Alleles on each of a pair of chromosomes are called homozygous if they are similar to each other and heterozygous if they are different. (thefreedictionary.com)
An organism in which the two copies of the gene are identical - that is, have the same allele - is called homozygous for that gene. (bionity.com)
Under appropriate conditions, subject to numerous limitations regarding the applicability of the Hardy-Weinberg principle , p 2 is the population fraction that is homozygous for the p allele, 2 p q is the frequency of heterozygotes and q 2 is the population fraction that is homozygous for the q allele. (bionity.com)
If the two alleles are identical, the individual is called a homozygote and is said to be homozygous . (wikipedia.org)
That is, the phenotype produced by the two alleles in heterozygous combination is identical to that produced by one of the two homozygous genotypes. (wikipedia.org)
Traits that are linked to alleles can be either homozygous or heterozygous, according to the Genetics Home Reference at the National Institutes of Health. (reference.com)
A trait is homozygous, or recessive, if it requires expression on both alleles to be shown. (reference.com)
We show that a well-preserved Neanderthal fossil dated at approximately 50,000 years B.P., was homozygous for the ancestral, non-D, allele. (plos.org)
Our results suggest that individuals homozygous for the A allele may be capable of greater ODC expression after environmental exposures, especially those that up-regulate c-MYC expression. (aacrjournals.org)
This allele (Smad2(3loxP)) functions hypomorphically when placed opposite a null allele, and unlike the other published Smad2 hypomorphic allele, can be maintained in the homozygous state. (unboundmedicine.com)

Where the heterozygote is indistinguishable from one of the homozygotes, the allele expressed is the one that leads to the dominant phenotype. (wikipedia.org)
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 that lead to recessive, rare, and frequently deleterious phenotypes. (wikipedia.org)
The interaction of multiple genes-and the variation in these genes ("alleles") between individuals-help to determine a person's eye color phenotype . (wikipedia.org)
Heterogeneity of the blood group Ax allele: genetic recombination of common alleles can result in the Ax phenotype. (google.com)
A dominant phenotype will be expressed when at least one allele of its associated type is present, whereas a recessive phenotype will only be expressed when both alleles are of its associated type. (bionity.com)
One exception is incomplete dominance (sometimes called blending inheritance) when alleles blend their traits in the phenotype. (bionity.com)
In other cases, both alleles contribute to the phenotype. (wikipedia.org)
If they are heterozygous with a dominant allele, the appearance ( phenotype ) is the same as a dominant homozygote. (wikipedia.org)
Only if both alleles are recessive does the recessive allele show in the phenotype b. (wikipedia.org)
AimsA prospectively enrolled patient cohort was used to assess whether the prediction of CYP2D6 phenotype activity from genotype data could be improved by reclassification of diplotypes or alleles. (rti.org)
two alleles that affect the phenotype of the heterozygote . (biology-online.org)

A designation of the specific alleles present on the two homologous chromosomes for all relevant loci of a mouse ( i.e. , all allele pairs of a genotype ). (jax.org)
However, this result only holds for the neutral case, and is not necessarily true for the case when some alleles are subject to selection, i.e. more or less fit than others, for example when the fittest genotype is a heterozygote (a situation often referred to as overdominance or heterosis). (wikipedia.org)
Lower shows the genotype conversion rates in embryos that inherited a D allele from their mother and a + allele from their father. (pnas.org)
i ) In a heterozygous female with genotype D/+, early expression of Cas9 in pregonial cells before the window for HDR can convert a fraction of wild-type alleles to resistance alleles by end-joining repair, although resistance alleles could possibly form later in the germline as well. (pnas.org)
An individual's genotype for that gene is the set of alleles it happens to possess. (bionity.com)
In a diploid organism, one that has two copies of each chromosome, two alleles make up the individual's genotype. (bionity.com)
In this example, parents have the genotype Bb (capital letters show dominant alleles and lower-case letters to show recessive alleles). (wikipedia.org)
We came across the *4 allele, and it was often found with *17 - the genotype results always came back that both alleles were present, but we didn't know the phase. (genomeweb.com)

In heterozygous pairings, one allele is usually dominant, and the other recessive. (dictionary.com)
If the alleles are different, they and the organism are heterozygous with respect to that gene. (wikipedia.org)
CRISPR homing gene drives can convert heterozygous cells with one copy of the drive allele into homozygotes, thereby enabling super-Mendelian inheritance. (pnas.org)
An organism which has two different alleles of the gene is called heterozygous . (bionity.com)
If instead the two alleles are different, the individual is a heterozygote and is heterozygous . (wikipedia.org)
A trait is heterozygous, or dominant, if it requires expression on only one allele to be shown. (reference.com)
If the alleles are different, the individual or cell is heterozygous for both alleles. (thefreedictionary.com)

She means that no unique genetic variants, or alleles, have been found in Native American groups. (discovermagazine.com)
In some cases, the gene for a particular trait comes in many variants, called alleles, in some cases only in two. (physicsforums.com)
Note that with the advent of neutral genetic markers , the term 'allele' is now often used to refer to DNA sequence variants in non-functional, or junk DNA . (bionity.com)
Analysis of the data revealed that non-European populations have a higher number of the gene variants, known as alleles, which are thought to contribute to the risk of developing lupus, amongst the Chinese population. (news-medical.net)
The researchers have chosen potential candidate autism alleles from the Simons Simplex Collection (SSC) that can be studied with C. elegans molecular genetics, having identified C. elegans equivalents of many of the human autism-associated variants. (sfari.org)
Sternberg and his team will construct C. elegans strains that that replace the normal C. elegans allele with human variants, comparing the phenotypes of autism-variant strains with those carrying the standard allele as well as with strains lacking the protein. (sfari.org)
Given that current genotyping and sequencing assays are unable to distinguish the phase of these variants, Stuart and colleagues developed a rapid allele-specific PCR method to detect and differentiate the related *4A, *4B, and *17 alleles for improved pharmacogenetic metabolizer prediction. (genomeweb.com)
Similar levels of microsatellite diversity were found on variants G6PD*B and G6PD*A ( H = 0.61 and 0.68, respectively), indicating a similar age for both alleles. (bioone.org)

In addition, could you also tell me the frequencies of the alleles in the population? (bio.net)
The PCV takes estimates of recombination frequencies as an input vector and calculates the probability that a pair of parents will produce a gamete with desirable alleles at all specified loci. (genetics.org)
Forces that determine the allele frequencies in natural populations include genetic drift, natural selection, migration and mutation. (els.net)
A balance of opposing forces can, in some cases, cause allele frequencies to approach a stationary distribution over time. (els.net)
The form of this distribution is not influenced by initial allele frequencies, but instead is determined by the relative magnitudes of different evolutionary forces. (els.net)
Statistical distributions are presented for the stationary allele frequencies under several simple population genetic models (including the k alleles symmetrical mutation model and the Wright island model of migration). (els.net)
If evolutionary forces such as natural selection, genetic drift and migration remain constant allele frequencies may reach to a stationary distribution. (els.net)
Because evolutionary forces are often changing on a relatively short time‐scale the allele frequencies in many populations will not be at equilibrium. (els.net)
Fearnhead P (2006) The stationary distribution of allele frequencies when selection acts at unlinked loci. (els.net)
Fig. 1: Timing clonal copy number gains using allele frequencies of point mutations. (nature.com)
How are allele frequencies related to gene pools? (enotes.com)
However, last year, as part of a study examining the frequencies of certain CYP2C19 alleles in various ethnic populations, the Mount Sinai group identified a novel allele called CYP2C19*4B - work that was published in The Pharmacogenomics Journal . (genomeweb.com)
A couple of years ago we started doing [CYP2C19] population genotyping … to look for novel alleles and establish allele frequencies in different populations," Scott said. (genomeweb.com)
The estimated frequencies of the G6PD*B normal allele, the G6PD*A variant (376G), and the G6PD*A- allele were 0.698, 0.194, and 0.108, respectively. (bioone.org)

The paper showcases how CRISPR/Cas9 can help validate risk alleles in disease. (alzforum.org)
Researchers have begun using the system to test the function of disease risk alleles identified in GWAS. (alzforum.org)
For the first time we've shown that Chinese populations have a higher number of risk alleles than their European counterparts, but we don't understand why this susceptability hasn't diminished over time for non-Europeans. (news-medical.net)
Further analysis of the data also uncovered 10 additional risk alleles associated with lupus, bringing the total of known lupus-related alleles to 88. (news-medical.net)
Identifying more lupus-related risk alleles gives us a clearer picture of the genetic triggers. (news-medical.net)
We found that type 2 diabetes risk alleles at the CDKAL1 and HHEX-IDE loci were associated with reduced birth weight when inherited by the fetus: 21g [95%CI:11-31g], P =2×10 −5 and 14g [4-23g], P =0.004 lower birth weight per risk allele, respectively. (diabetesjournals.org)
The 4% of offspring carrying four risk alleles at these two loci were 80g [39-120g] lighter at birth than the 8% carrying none ( P trend =5×10 −7 ). (diabetesjournals.org)

Two human examples of multiple-allele genes are the gene of the ABO blood group system, and the human-leukocyte-associated antigen (HLA) genes. (encyclopedia.com)
What makes two genes similar so they are responsible for determining the same physical trait but different since they are different alleles? (physicsforums.com)
n. alelo, alelomorfo, uno de dos o más genes de una serie que ocupa la misma posición en cromosomas homólogos y que determina características alternantes en los descendientes. (thefreedictionary.com)
With the purpose of identifying genes of susceptibility, the present study investigated the possible role of HLA-DRB1 and DQA1/DQB1 alleles in susceptibility to leprosy, and whether they account for the heterogeneity in immune responses observed following infection in a Southern Brazilian population. (mendeley.com)
Alleles or genes which are not sex-linked are called autosomal . (wikipedia.org)
Production of mutant mouse ES cell lines, each of which carries an altered or "floxed" allele of a single gene allows the creation of somatic mutations in defined genes. (europa.eu)
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. (frontiersin.org)
How do the genes decide which allele to choose? (enotes.com)
The alleles are specialized genes that determine the unique qualities of these body parts. (enotes.com)

Taking into consideration the genotypes of parents and progenies, the segregation of PRNP 6 and PRNP 5 alleles was analysed. (psu.edu)
Semen Archive breed liason manager Simon Farmer says the archive is interested in collecting the alleles that make up susceptible genotypes, rather than solely the susceptible genotypes. (fwi.co.uk)
2007) software on the basis of all adult individual's genotypes (without recapture individuals, n = 77): deviation from Hardy-Weinberg equilibrium, observed and expected heterozygosity and a null allele (i. (thefreedictionary.com)
The following equation (commonly termed the Lee equation) can be used to calculate the number of possible genotypes in a diploid organism for a specific gene with a given number of alleles. (bionity.com)
where a is the number of different alleles for the gene being dealt with and G is the number of possible genotypes. (bionity.com)
Is there a keyword for alleles rather than genotypes? (ethz.ch)
and (3) assigning breed origin to alleles of crossbred animals based on a library of assigned haplotypes, the breed composition of crossbred animals, and their SNP genotypes. (wur.nl)
These QTLs could be used by sweet corn breeders by combining the most favorable alleles associated with su1 viability in breeding new genotypes from field × sweet corn crosses. (springer.com)
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. (frontiersin.org)
Here we present and apply an improved version of the TIgGER algorithm which can detect alleles that differ by any number of SNPs from the nearest database allele, and can construct subject-specific genotypes with minimal prior information. (frontiersin.org)

Comparison of allele O sequences of the human and non-human primate ABO system. (google.com)
Usually alleles are sequences that code for a gene , but sometimes the term is used to refer to a non-gene sequence. (bionity.com)
Alleles are different by state if they have different DNA sequences . (wikipedia.org)
High sequencing depth can also be used to identify phylogenetically informative allelic variation within sequenced individuals, but allele sequences are infrequently assembled in phylogenetic studies. (gu.se)
Here, we develop an easy-to-use pipeline to recover allele sequences from sequence capture data, and we use simulated and empirical data to demonstrate the utility of integrating these allele sequences to analyses performed under the multispecies coalescent model. (gu.se)
Our simulations provide evidence that analyzing allele sequences leads to more accurate estimates of tree topology and divergence times than the more common approach of using contig sequences. (gu.se)
The high yield of Neanderthal mtDNA sequences of the studied specimen, the pattern of nucleotide misincorporation among sequences consistent with post-mortem DNA damage and an accurate control of the MCPH1 alleles in all personnel that manipulated the sample, make it extremely unlikely that this result might reflect modern DNA contamination. (plos.org)
In this paper, 13 T descriptors, which derived from 544 physicochemical properties of the natural amino acids, were used to characterize 4 MHC class I alleles epitope peptide sequences, the optimal QSAR models were constructed by using stepwise regression combines with multiple linear regression (STR-MLR). (ingentaconnect.com)
IMGT/HighV-QUEST ( 12 ), IgBLAST ( 13 ), or iHMMune-Align ( 14 )] are used to align sample sequences to the set of unmutated reference alleles from an IgGRdb, such as the one maintained by IMGT ( 3 ). (frontiersin.org)

She isn't yellow, so she must have a dominant allele at one of the E loci. (thefreedictionary.com)

Alleles are alternative forms of a gene, and they are responsible for differences in phenotypic expression of a given trait (e.g., brown eyes versus green eyes). (encyclopedia.com)
For one trait there can be several sets of alleles, maybe all different, for a single trait. (physicsforums.com)
So humans do not always have only two alleles for a given trait. (physicsforums.com)
Furthermore, as long as there are very few cultivars that are capable of maintenance and regeneration in tissue culture, creation of novel alleles through genome-editing technologies will likewise depend on trait introgression for cultivar development. (genetics.org)
In almost all animal cells, two alleles for each trait are inherited, one from each parent. (thefreedictionary.com)
Brown eyes are a dominant trait, so if even one brown-eyed allele is present, the child will always have brown eyes. (enotes.com)
Blue eyes are a recessive trait, so a child will have blue eyes only if both parents' alleles contain that code. (enotes.com)
A Gene that has three or more alleles for a trait, is what? (enotes.com)
The phenotypic expression of an allele is a function of whether the gene is dominant (in which case only one allele is needed for expression) or recessive (requiring that both alleles be the same for expression of a trait). (thefreedictionary.com)

The word "allele" is a short form of allelomorph ("other form", a word coined by British geneticists William Bateson and Edith Rebecca Saunders ), [4] [5] which was used in the early days of genetics to describe variant forms of a gene detected as different phenotypes . (wikipedia.org)
Extensive polymorphism of ABO blood group gene: three major lineages of the alleles for the common ABO phenotypes. (google.com)
Different alleles cause an imbalance in A2 and A2B phenotypes of the ABO blood group. (google.com)
Phenotypes (the expressed characteristics) associated with a certain allele can sometimes be dominant or recessive, but often they are neither. (bionity.com)
The word "allele" is a short form of allelomorph ('other form'), which was used in the early days of genetics to describe variant forms of a gene detected as different phenotypes. (primidi.com)

[1] Examples of recessive alleles include the allele for green in the pea Pisum sativum (the subject of Gregor Mendel 's heredity experiments). (conservapedia.com)
What Is the Difference Between Dominant and Recessive Alleles? (reference.com)

As such, the group plans to seek approval from the New York State Department of Health to use the assay at Mount Sinai Hospital as a reflex test after identifying certain alleles during targeted, pre-emptive CYP2C19 genotyping to aid in therapeutic administration, Stuart Scott, an assistant professor of genetics and genomic sciences at the medical school and corresponding author on the recent publications, told PCR Insider this week. (genomeweb.com)

A null allele is a gene variant that lacks the gene's normal function because it either is not expressed, or the expressed protein is inactive. (wikipedia.org)
2,3) IR8 contains a 383-bp deletion from exon 1 to exon 2 in SD-1, which produces a null allele carrying a premature stop codon. (thefreedictionary.com)
For those markers where departures from Mendelian expectation occurred, the family group exhibited a potential null allele or an unexpected band was observed, both parents and 6 progeny were selected and DNA amplified. (thefreedictionary.com)

Alleles can be dominant or recessive. (enotes.com)

Because of pseudodeficiency alleles, the results of enzyme assay testing in one population cannot be generalized to other populations. (wikipedia.org)
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 ). (wikipedia.org)
These show the distribution of O blood type, the A allele, and the B allele, amongst indigenous populations by region, i.e., before any migrations, visitation or crossbreeding. (dadamo.com)
This probably reflects the spread of Steppe ancestry populations in which the allele originated. (eupedia.com)
All G6PD*A- alleles share the RFLP-microsatellite haplotype - - /195, the same haplotype described in nearly all the *A- alleles from sub-Saharan, Mexican Mestizo, and Portuguese populations, consistent with a single and recent origin of the G202A mutation on this *A haplotype. (bioone.org)

And it was interesting to us and others, too, because *17 … is the gain-of-function promoter allele, and *4 is a loss-of-function allele. (genomeweb.com)
What's more, some of those *17 carriers - although not a high percentage - end up being *4B carriers, meaning they have a loss-of-function allele and thus would be intermediate or poor metabolizers. (genomeweb.com)

Million Mutation Project alleles are placed in a separate track. (wormbase.org)
A pseudodeficiency allele or pseudodeficiency mutation is a mutation that alters the protein product or changes the gene's expression, but without causing disease. (wikipedia.org)
Cre-mediated recombination results in a deletion allele which phenocopies our previously reported Smad2(DeltaC) null mutation. (unboundmedicine.com)
To generate this conditional allele, we first made a targeted mutation which introduced a floxed neo cassette into intron 10. (unboundmedicine.com)
Furthermore, this translation initiation mutation occurs independent of the *17 variant, an allele that is now designated *4A. (genomeweb.com)
These results suggest that the mutation of the second APC allele is an early event in Min and familial adenomatous polyposis tumorigenesis, supporting Knudson's hypothesis. (aacrjournals.org)

An allele ( / ə ˈ l iː l / ) [1] [2] is a variant form of a given gene . (wikipedia.org)
These comparisons will allow the researchers to infer how a variant allele affects activity of the gene, determining whether that allele eliminates, decreases, increases or alters gene activity, or has no effect. (sfari.org)

There are two equations for the frequency of two alleles of a given gene (see Hardy-Weinberg principle ). (bionity.com)
If the frequency of two alleles in a gene pool is 90% A and 10% a, what is the frequency of. (enotes.com)

Absolute quantities of plasma EGFR mutant and wild-type alleles were measured by ddPCR. (mendeley.com)
ii ) Nearly all remaining wild-type alleles will be converted to drive alleles before meiosis. (pnas.org)

When there is Hardy-Weinberg Disequilibrium the marker alleles and haplotypes are not independent of each other so the effects of disease predisposing alleles and haplotypes may be 'masked' by other non-disease predisposing alleles and haplotypes [25] or, in the case of a recessive condition, by the presence of a dominant allele on the homologous chromosome. (thefreedictionary.com)
An allele is an alternative form of a gene (in diploids, one member of a pair) that is located at a specific position on a specific chromosome. (bionity.com)
Diploid organisms have one copy of each gene (and therefore one allele ) on each chromosome. (primidi.com)
Each of these sections contains two alleles (one from each parent's chromosome), and here's where the variations occur: the gene in the eye-color section may have one allele for blue eyes and another for brown eyes. (enotes.com)
Humans have two, usually identical, alleles for each gene, one on each AUTOSOMAL chromosome of a pair. (thefreedictionary.com)

These are alleles generated through high-throughput, genome-wide projects. (wormbase.org)
These results also have implications for mutagenesis breeding or genome editing because the epistatic effects of the target genome on the new alleles generated by these techniques could affect the success of the breeding program. (springer.com)
Thus, there are only two copies (alleles) at every position in the genome, so pairing is not much of a problem. (madsci.org)

List of alleles describe known sequence alternatives in a variable region. (cpan.org)
Allele objects that have zero length sequence string. (cpan.org)
In addition describing the allele by its sequence , it possible to give describe repeat structure within the sequence. (cpan.org)
Function: Sets and returns the sequence of the repeat_unit the allele is composed of. (cpan.org)
There can be several variations of this sequence, and each of these is called an allele. (dictionary.com)
The fraction above the black bar specifies those resistance alleles in the two-gRNA drive in which the intermediate sequence between the two target sites was deleted. (pnas.org)
Fig. 3: Sequence comparisons of the alleles of SSR marker SC8-0071-014. (nature.com)
Since our description of the molecular genetic basis of the three major alleles and several minor alleles, additional ABO alleles have been molecularly characterized and their sequence information has been deposited in the national database (http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home) , which was established by Professor Olga Blumenfeld at Albert Einstein College of Medicine. (google.com)
Because the sequence context flanking the E-boxes has been shown to influence binding of Myc (18 , 19) , we explored the possibility that sequence differences between the two human ODC alleles might influence transcriptional activation by Myc. (aacrjournals.org)
Allele Specific Primer Extension (ASPE) is a solution based, sequence specific enzymatic reaction technology that can be used to assay multiple SNPs in a single tube. (premierbiosoft.com)
This is done with the help of an appropriate capture sequence attached to the allele specific oligonucleotide. (premierbiosoft.com)
Extension only occurs if the 3' end of the allele specific primer is bound to the homologous allelic sequence. (premierbiosoft.com)

When Richard Lewontin and J. Hubby published their groundbreaking results in 1966 which showed high levels of genetic variation in Drosophila via protein electrophoresis, the theoretical results from the infinite alleles model were used by Kimura and others to support the idea that this variation would have to be neutral (or result in excess segregational load). (wikipedia.org)

Complex traits such as height and longevity are usually caused by the interactions of numerous pairs of alleles, while simple traits such as eye color may be caused by just one pair. (dictionary.com)
[3] Sometimes, different alleles can result in different observable phenotypic traits , such as different pigmentation . (wikipedia.org)
What Are the Two Types of Allele Traits? (reference.com)
An allele is a type of gene which defines the possible variations of those traits in that specific organism. (enotes.com)

Genomic analysis of clinical samples with serologic ABO blood grouping discrepancies: identification of 15 novel A and B subgroup alleles. (google.com)
TIgGER predictions are validated both computationally (using a leave-one-out strategy) and experimentally (using genomic sequencing), resulting in the addition of three new immunoglobulin heavy chain V (IGHV) gene alleles to the IMGT repertoire. (frontiersin.org)

It will analyze genetic material and clinical data from HIV-positive individuals to assess differences in viral epitopes between patients with two different gene alleles (alternative forms of a gene)-B*3501 and B*3503. (clinicaltrials.gov)

Current models predict that inactivation of the remaining normal allele of a tumor suppressor gene is rate limiting for tumor formation, but this has been difficult to prove. (aacrjournals.org)

We tested the hypothesis that the deletion allele of the ACE gene is associated with insulin resistance. (ahajournals.org)

v ) After fertilization, persistent Cas9 can convert the paternal and remaining maternal wild-type chromosomes of the initial zygote into resistance alleles. (pnas.org)
However, all CRISPR homing gene drives studied in insects thus far have produced significant quantities of resistance alleles that would limit their spread. (pnas.org)
We further show that an autosomal drive can achieve drive conversion in the male germline, with no subsequent formation of resistance alleles in embryos through paternal carryover of Cas9. (pnas.org)

Only the differences (mutations/single nucleotide polymorphisms (SNPs)) from the A101 allele are shown on the appropriate nucleotide locations (5' to 3' of the gene is shown from left to right). (google.com)
All SNPs were skewed towards the A allele (from B73) in the non-sweet corn RILs and towards the C allele (from P39) in the sweet corn RILs. (springer.com)
However, the original algorithm was unable to detect alleles that differed by more than 5 single nucleotide polymorphisms (SNPs) from a database allele. (frontiersin.org)

The promoter/regulatory region derived from the minor ODC allele (A allele) was more effective in driving luciferase expression in these assays than the identical region from the major allele (G allele). (aacrjournals.org)

Generating rats with conditional alleles using CRISPR/Cas9. (nih.gov)
(A) A schematic overview of the strategy to generate a Dnmt3a conditional allele. (nih.gov)
(C) A schematic overview of the strategy to generate a Dnmt3b conditional allele. (nih.gov)
To circumvent the early lethality and study the spatially and temporally specific functions of Smad2, we utilized the Cre-loxP system to generate a Smad2 conditional allele. (unboundmedicine.com)
Here we show that a conditional allele, Smad2(flox), was generated. (unboundmedicine.com)
TY - JOUR T1 - Generation of novel conditional and hypomorphic alleles of the Smad2 gene. (unboundmedicine.com)

Allele was incorporated in 1999 as a biotechnology discovery company. (bioportfolio.com)
Established in 1999, Allele Biotechnology's mission is to further therapeutic innovation and support clinical studies by providing cutting edge technologies and clinical-grade solutions to partners in the stem cell therapy arena. (businesswire.com)

In a heterozygote the effect of one allele may completely 'mask' the other. (wikipedia.org)
An individual with "Type A" blood may be an AO heterozygote, an AA homozygote, or an A'A heterozygote with two different 'A' alleles. (primidi.com)

If both alleles are the same, they are homozygotes. (primidi.com)

An individual inherits one allele from each parent for each gene. (reference.com)

This means both the alleles have a degree of phenotypic expression in the hybrids. (wikipedia.org)

A wild type allele is an allele which is considered to be "normal" for the organism in question, as opposed to a mutant allele which is usually a relatively new modification. (bionity.com)

The white color and the mode of inheritance are controlled by an autosomal dominant allele designated I (KIT) for 'inhibition of color' (Ollivier and Sellier, 1982). (thefreedictionary.com)

All together, these methods allow for much higher accuracy in germline allele assignment, an essential step in AIRR-seq studies. (frontiersin.org)

The inheritance of alleles, and their dominance, can be represented in a Punnett square . (wikipedia.org)

The ABO system in humans is controlled by three alleles, usually referred to as I A , I B , and I O (the "I" stands for isohaemagglutinin). (encyclopedia.com)
In humans, for example, the allele for brown eyes is dominant, and the allele for blue eyes is recessive. (thefreedictionary.com)

I could not find any definition that would really explain what an allele is, but this is understandable enough. (hubpages.com)

Results of transfection assays with allele-specific reporter constructs support this hypothesis. (aacrjournals.org)
Currently, all FDA-cleared CYP2C19 genotyping assays include *17 among other alleles, but not the *4 allele. (genomeweb.com)
Design strain differentiation Allele Specific Primer Extension (ASPE) xMAP®assays with AlleleID® . (premierbiosoft.com)
Allele specific oligonucleotides can be developed by following the assay design guidelines outlined here or by using PrimerPlex , a software tool for designing ASPE assays for multiplex analysis on xMAP based systems. (premierbiosoft.com)

Alleles" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)

I A and I B are codominant and produce type A and type B antigens, respectively, which migrate to the surface of red blood cells, while I O is the recessive allele and produces no antigen. (encyclopedia.com)
silent allele one that produces no detectable effect. (thefreedictionary.com)

A gene for which at least two alleles exist is said to be polymorphic. (encyclopedia.com)
10 years that there are two alleles of the human ornithine decarboxylase ( ODC ) gene, defined by a polymorphic Pst I RFLP in intron 1. (aacrjournals.org)

Further investigations are carried out to explain the genetic determination of abnormal PRNP octa-peptide repeat allele segregation, which suggests possible lethal cis-trans linkage effects. (psu.edu)

We present a statistical model to describe allele-specific methylation (ASM) in data from high-throughput short-read bisulfite sequencing. (rti.org)

Organisms3

Diseases1

Chemicals and Drugs20

Analytical, Diagnostic and Therapeutic Techniques and Equipment20

Phenomena and Processes53

Disciplines and Occupations1

Technology, Industry, Agriculture1

Information Science4

Named Groups3

Health Care5

Geographicals1

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

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

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

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

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

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

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

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

Alleles

Genotype

Gene Frequency

Polymorphism, Genetic

Polymorphism, Single Nucleotide

Mutation

Genetic Predisposition to Disease

Phenotype

Haplotypes

Genetic Variation

Heterozygote

Molecular Sequence Data

Homozygote

Base Sequence

Polymerase Chain Reaction

Chromosome Mapping

Linkage Disequilibrium

Microsatellite Repeats

Genetic Markers

Case-Control Studies

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 Mutational Analysis

DNA Primers

HLA-DQ Antigens

HLA-DR Antigens

Genes, Lethal

Selection, Genetic

Genetic Loci

Genes, Dominant

European Continental Ancestry Group

HLA-B Antigens

Genes, Recessive

Apolipoprotein E4

Suppression, Genetic

Point Mutation

DNA

Recombination, Genetic

Minisatellite Repeats

Genetic Complementation Test

Heterozygote Detection

Gene Deletion

Mutation, Missense

Promoter Regions, Genetic

Risk Factors

Quantitative Trait Loci

Genome-Wide Association Study

HLA-DQ alpha-Chains

Introns

Cloning, Molecular

Genes, Plant

Saccharomyces cerevisiae

Epistasis, Genetic

Drosophila melanogaster

Genetic Testing

HLA Antigens

Apolipoproteins E

Genes, Fungal

Phylogeny

Mutagenesis

China

Evolution, Molecular

HLA-A Antigens

African Continental Ancestry Group

Genes

Sequence Deletion

Polymorphism, Single-Stranded Conformational

DNA-Binding Proteins

Transcription Factors

Dinucleotide Repeats

Identification of a novel HLA-Cw05 allele, Cw0503<...

wk2 - Application to Punnett Square IV Inheritance Patterns Allelic Interactions Name Description ratioadds toseen in Example...