• mutant
  • A mutant allele that produces no protein is called a protein null (shown by western analysis), and one that produces no RNA is called an RNA null (shown by Northern analysis or by DNA sequencing of a deletion allele). (wikipedia.org)
  • One mutant lethal allele is tolerated, but having two results in death. (wikipedia.org)
  • Calculating the frequency spectrum from observed sequence data requires one to be able to distinguish the ancestral and derived (mutant) alleles, often by comparing to an outgroup sequence. (wikipedia.org)
  • Variation
  • 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)
  • Estimating allele age based on intra-allelic variation is based on the fact that with every generation, linkage with other alleles (linkage disequilibrium) is disrupted by recombination and new variation in linkage is created via new mutations. (wikipedia.org)
  • The analysis of intra-allelic variation to assess allele age depends on coalescent theory. (wikipedia.org)
  • There are two different approaches that can be used to analyze allele age based on intra-allelic variation. (wikipedia.org)
  • In 1990, Jean-Louis Serre and his team were the first to assess allele age by analyzing intra-allelic variation. (wikipedia.org)
  • 3,Many intra-allelic variation studies suggest that disease-causing alleles arose rather recently in human history. (wikipedia.org)
  • neutral
  • 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)
  • These results became important in the formation of the neutral theory, because neutral (or nearly neutral) alleles create no such segregational load, and allow for the accumulation of a great deal of polymorphism. (wikipedia.org)
  • 1,They showed that the age of a neutral allele can be estimated (assuming a large, randomly mating population) by E(t_1 )=(-2p)/(1-p) ln⁡(p) Where p represents the allele frequency and t1 is the expected age, measured in units of 2N generations. (wikipedia.org)
  • polymorphic
  • If QC is to be used for mapping population non parental alleles are discarded and alleles for which more than 90% of SNPs are polymorphic between the parents are kept. (wikipedia.org)
  • mutations
  • The infinite alleles model is a mathematical model for calculating genetic mutations. (wikipedia.org)
  • Divergence from the reference sequences (from genetic mutations) results in poor annealing of the primers so that the marker cannot be used, representative of a null allele. (wikipedia.org)
  • This can happen through random mutations that lead to the development of a new allele. (wikipedia.org)
  • There are different DNA mutations of either type A or Type B alleles that change several amino acids in enzyme transferase A or B, homologous enzymes differing in only four of 354 amino acids (R176G, G235S, L266M, and G268A). (wikipedia.org)
  • dominant
  • Alleles that need only be present in one copy in an organism to be fatal are referred to as dominant lethal alleles. (wikipedia.org)
  • An example in humans of a dominant lethal allele is Huntington's disease, a rare neurodegenerative disorder that ultimately results in death. (wikipedia.org)
  • population
  • Function: Sets and returns the frequency of the allele in the observed population. (cpan.org)
  • There is no area of the world (with the tiny Arctic exception cited above) where less than 50% of the population was originally Type O, or where more than 45% had the A allele, or more than 30% had the B-allele. (dadamo.com)
  • Enzyme assay testing was especially effective among Ashkenazi Jews because fewer pseudodeficiency alleles are found in this population, as compared with the general population. (wikipedia.org)
  • The effective number of alleles n maintained in a population is defined as the inverse of the homozygosity, that is n = 1 F = 4 N e u + 1 {\displaystyle n={1 \over F}=4N_{e}u+1} which is a lower bound for the actual number of alleles in the population. (wikipedia.org)
  • If the effective population is large, then a large number of alleles can be maintained. (wikipedia.org)
  • To illustrate what a fixed allele, lets imagine a population of rabbits where there are three alleles for fur color brown, gray or white. (wikipedia.org)
  • In this initial population, there is no fixed allele. (wikipedia.org)
  • Then an event, such as a forest fire, causes the elimination of one of the alleles from the population. (wikipedia.org)
  • Lets assume all the gray rabbits were killed in a forest fire, and now all that remains in the population are the white and brown alleles. (wikipedia.org)
  • Eventually the only remaining allele in the population is the brown allele, this allele is now a fixed allele. (wikipedia.org)
  • Fixation is the process through which an allele becomes a fixed allele within a population. (wikipedia.org)
  • The demographic history of a population and natural selection affect allele frequency dynamics, and these effects are reflected in the shape of the allele frequency spectrum. (wikipedia.org)
  • For example in human population genetic studies, the homologous chimpanzee reference sequence is typically used to estimate the ancestral allele. (wikipedia.org)
  • heterozygote
  • 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)
  • Incomplete dominance is the condition in which neither allele dominates the other in one heterozygote. (wikipedia.org)
  • Thus you can tell that each allele is present in the heterozygote. (wikipedia.org)
  • produces
  • The wild-type allele produces a blend of yellow and black pigmentation in each hair of the mouse. (wikipedia.org)
  • The A allele produces α-1,3-N-acetylgalactosamine transferase (A-transferase), which catalyzes the transfer of GalNAc residues from the UDP-GalNAc donor nucleotide to the Gal residues of the acceptor H antigen, converting the H antigen into A antigen in A and AB individuals. (wikipedia.org)
  • variant
  • Kompetitive Allele Specific PCR (KASP) is a homogenous, fluorescence-based genotyping variant of Polymerase Chain Reaction. (wikipedia.org)
  • CARRIERS
  • If two cystic fibrosis carriers have children, they have a 25 percent chance of producing offspring having two copies of the lethal allele, eventually resulting in the death of the child. (wikipedia.org)
  • combinations
  • Are allele combinations determined by chance? (madsci.org)
  • Subject: Are allele combinations determined by chance? (madsci.org)
  • By observing the consequences of different inactive allele combinations, the researchers were able to deduce the roles of insulin-like growth factors in the development of mice. (wikipedia.org)
  • Combinations of different alleles thus go on to generate different traits through the information flow charted above. (wikipedia.org)
  • Therefore, biochemistry predicts how different combinations of alleles will produce varying traits. (wikipedia.org)
  • lethal
  • Lethal alleles can cause death of an organism prenatally or any time after birth, though they commonly manifest early in development. (wikipedia.org)
  • Lethal alleles were first discovered by Lucien Cuénot in 1905 while studying the inheritance of coat colour in mice. (wikipedia.org)
  • estimates
  • Buzbas EO and Joyce P (2009) Maximum likelihood estimates under K‐allele models can be numerically unstable. (els.net)
  • incomplete
  • A pseudodeficiency allele may indicate a deficiency of the enzyme assay method, or it may reflect incomplete understanding of the enzyme's activity. (wikipedia.org)
  • enzyme activity
  • For example, in the lysosomal storage diseases, patients with a pseudodeficiency allele show greatly reduced enzyme activity, yet they remain clinically healthy. (wikipedia.org)
  • disease
  • HIV disease in people with the B*3503 allele progresses significantly faster than it does in people with the B*3501 allele. (clinicaltrials.gov)
  • These data will be useful in explaining the difference in disease progression between individuals possessing B*35 Px alleles and those with B*35 PY alleles. (clinicaltrials.gov)
  • Estimating the time at which a certain allele appeared allows researchers to infer patterns of human migration, disease, and natural selection. (wikipedia.org)
  • Samples 2 and 6 have only the "S" allele, and would be affected by the disease. (wikipedia.org)
  • present
  • For some genetic diseases, especially those that have low penetrance or are easily treatable, carrier screening may be of questionable value when pseudodeficiency alleles are present at high frequency. (wikipedia.org)
  • describe
  • List of alleles describe known sequence alternatives in a variable region. (cpan.org)
  • In addition describing the allele by its sequence , it possible to give describe repeat structure within the sequence. (cpan.org)
  • sequence
  • Allele objects that have zero length sequence string. (cpan.org)
  • Function: Sets and returns the sequence of the repeat_unit the allele is composed of. (cpan.org)
  • An allele-specific oligonucleotide (ASO) is a short piece of synthetic DNA complementary to the sequence of a variable target DNA. (wikipedia.org)
  • The fluorescent labeled primer complements the tail sequence of the allele-specific forward primer, allowing for elongation to occur. (wikipedia.org)
  • common
  • There are three components that are critical to the KASP assay: 1) a purified DNA sample, 2) two allele-specific forward primers, and 3) a common reverse primer. (wikipedia.org)
  • In the second round of PCR, the complementary strand to the allele-specific forward primer is generated when the common reverse primer binds to the amplicon formed in the first round of PCR. (wikipedia.org)
  • There are six common alleles in individuals of European descent. (wikipedia.org)