Likelihood analysis of disequilibrium mapping, and related problems

Article Abstract:

A theory has been developed as a means to give a method for finding sampling distribution of alleles at a diallelic marker locus linked closely to a low-frequency allele that came up as a single mutant. Sampling distribution gives a basis for maximum likelihood estimation of the recombination rate, the mutation rate or the age of the allele in the event that the other two parameters are known. The theory has been used on data related to diastrophic dysplasia and a linked RFLP marker to estimate the recombination rate. It has been used to estimate the date for non-African lineages diverging from African ones, based on the CD4 locus and to estimate age of a presumptive allele that brought idiopathic distortion dystonia in Ashkenzi, a group of Jewish extraction. The new model better accounts for all variation sources.

United States, Planning, Genetic aspects, Statistics, Statistics (Data), Genetic research, Dysplasia, Ashkenazim, Dystonia

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Disequilibrium mapping of a quantitative-trait locus in an expanding population

Article Abstract:

Two statistical tests have been developed to evaluate the association between an allele and a quantitative trait. The tests can be used in combination, and they can effectively detect a low-frequency allele with an effect on the trait that is relatively large, as long as the quantitative-trait locus (QTL) has already been identified as a candidate or is closely related to a marker locus that exhibits strong linkage disequilibrium with the QTL.

Human population genetics

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Incorporating genotypes of relatives into a test of linkage disequilibrium

Article Abstract:

A test of linkage disequilibrium has been developed that uses an empirical null distribution of a sample's likelihood. The gametic phase of an individual is reconstructed based on information on relatives' genotypes. The test is most effective when both parents and offspring are sampled. For multiallelic data an exact test is more powerful, because of the connection between deviation from Hardy-Weinberg equilibrium and linkage disequilibrium.

Research, Genotype, Genotypes, Human genetics, Linkage (Genetics)

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