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Estimating Allele Frequencies [PDF]
, 2011 Methods of estimating allele frequencies from data on unrelated and related individuals are described in this chapter. For samples of unrelated individuals with simple codominant markers, the natural estimator of allele frequencies can be used. For genetic data on related individuals, maximum likelihood estimation (MLE) can be applied to compute allele
Indra Adrianto, Courtney G. Montgomery
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Annals of Human Genetics, 2007
SummaryThe human apoE gene (APOE, GenBank accession AF261279) shows a common polymorphism, with the three ɛ2, ɛ3 and ɛ4 alleles resulting from the haplotypes of two C→T SNPs. However, whereas the three common T‐T, T‐C and C‐C haplotypes corresponding to the ɛ2, ɛ3 and ɛ4 alleles are well known, the last C‐T haplotype (GenBank accession AY077451 ...
Antonio Daniele +15 more
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SummaryThe human apoE gene (APOE, GenBank accession AF261279) shows a common polymorphism, with the three ɛ2, ɛ3 and ɛ4 alleles resulting from the haplotypes of two C→T SNPs. However, whereas the three common T‐T, T‐C and C‐C haplotypes corresponding to the ɛ2, ɛ3 and ɛ4 alleles are well known, the last C‐T haplotype (GenBank accession AY077451 ...
Antonio Daniele +15 more
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The distribution of rare alleles
Journal of Mathematical Biology, 1995Population geneticists have long been interested in the behavior of rare variants. The definition of a rare variant has been the subject of some debate, centered mainly on whether alleles with small relative frequency should be considered rare, or whether alleles with small numbers should be.
Simon Tavaré, Paul Joyce
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ALLELISM, NON-ALLELISM, AND GENETIC COMPOUNDS AMONG THE MUCOPOLYSACCHARIDOSES
The Lancet, 1972Abstract On the basis of cellular studies it is proposed that the genes for the strikingly dissimilar Hurler and Scheie syndromes are allelic, and that genetic compounds of the Hurler and Scheie genes occur, presenting an intermediate phenotype. Two clinically distinct forms of X-linked mucopolysaccharidosis (Hunter syndrome) are probably determined ...
Victor A. McKUSICK +9 more
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Allelic histories: positive selection on a HIV-resistance allele
Trends in Ecology & Evolution, 2004The CCR5-Delta32 allele crucially determines the course of HIV infection and appears to be highly protective against the disease. Population genetic studies suggest that the allele has been under positive selection in Europe in the past. In a recent paper, Alison Galvani and Montgomery Slatkin collate the available evidence and use a mathematical model
Hilde Wilkinson-Herbots +1 more
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2014
Methods used to understand the function of a gene/protein are one of the hallmarks of modern molecular genetics. The ability to genetically manipulate bacteria has become a fundamental tool in studying these organisms and while basic cloning has become a routine task in molecular biology laboratories, generating directed mutations can be a daunting ...
McKenzie K, Lehman +2 more
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Methods used to understand the function of a gene/protein are one of the hallmarks of modern molecular genetics. The ability to genetically manipulate bacteria has become a fundamental tool in studying these organisms and while basic cloning has become a routine task in molecular biology laboratories, generating directed mutations can be a daunting ...
McKenzie K, Lehman +2 more
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The use marker alleles for the introgression of linked quantitative alleles
Theoretical and Applied Genetics, 1977It is shown that when an exotic strain and a commercial strain differ genetically at a quantitative locus and at an adjoining marker locus, repeated backcrosses to the commercial strain, retaining only backcross progeny carrying the exotic marker allele, will allow the effective introgression of the linked quantitative allele from the exotic to the ...
J. Plotkin-Hazan, M. Soller
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Frequency of Gc Alleles and a Variant Gc Allele in Iceland
Human Heredity, 1980The gene frequency for Gc1 and Gc2 in an Icelandic population was found to be 0.71 and 0.29, respectively. An electrophoretic variant similar to Gc Norway was detected in 5 individuals of the same family. A pedigree of 14 family members, including two spouses, is presented.
Gudmundur Thordarson +3 more
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Theoretical Population Biology, 2001
A subpopulation D of rare alleles is considered. The subpopulation is part of a large population that evolves according to a Moran model with selection and growth. Conditional on the current frequency, q, of the rare allele, an approximation to the distribution of the genealogy of D is derived.
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A subpopulation D of rare alleles is considered. The subpopulation is part of a large population that evolves according to a Moran model with selection and growth. Conditional on the current frequency, q, of the rare allele, an approximation to the distribution of the genealogy of D is derived.
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On the Genealogy of a Rare Allele
Theoretical Population Biology, 1997The gene genealogy is derived for a rare allele that is descended from a mutant ancestor that arose at a fixed time in the past. Following Thompson (1976, Amer. J. Human Genet. 28, 442-452), the fractional linear branching process is used as a model of the demography of a rare allele.
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