DNA variation in a 5-Mb region of the X chromosome and estimates of sex-specific/type-specific mutation rates

Article Abstract:

A new approach for the study of human genome variation has been described. It is based on a solid-phase fluorescence chemical mismatch-cleavage method. A 5-Mb region of Xq22 was examined to define haplotypes of 23 men, of whom 9 were Europeans, 9 Ashkenazim and 5 Pygmy, by reference to DNA from one Italian male. Three segregating sites were found in a 16.5-kb unique region of the Y chromosome. Divergence in humans and chimpanzees in the X- and Y-chromosome sequences showed higher male mutation rates for different mutation types. The rates for the X chromosomes were much like those estimated for the X-linked factor IX gene in the UK population. Estimates have been made of sex-specific/type-specific mutation rates.

United Kingdom, Genetic aspects, Evolution (Biology), Evolution, Variation (Biology), Population genetics, Chimpanzees, Fluorimetry

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On the assessment of statistical significance in disease-gene discovery

Article Abstract:

Raising the LOD-score criterion from 3.0 to 3.6 does not yield significantly greater reliability. According to a simulation using the Monte Carlo method, type I error is affected by chromosome length, number of markers, and sample sizes. When LOD score 3.0 is used, the typical chromosome-wide type I error rate is .00574, while LOD score 3.6 produces a type I error rate of .00191. When the sample size is larger and the chromosome is short, it may be preferable to use a LOD score between 3.0 and 3.6.

Monte Carlo method, Monte Carlo methods, Statistical hypothesis testing

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Mapping of complex traits by single-nucleotide polymorphisms

Article Abstract:

A semiparametric method for combined linkage/linkage-disequilibrium analysis using single-nucleotide polymorphism (SNP) markers has been described. When linkage and linkage-disequilibrium signals are combined, analysis leads to indications of much stronger and clearer signals for two major genes. Molecular geneticists are developing the third-generation human genome map with SNPs. The SNPs can be assayed using chip-based microarrays.

United States, Semiconductor chips, Integrated circuits, Linkage (Genetics), Array processors

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