Dissertation Ressearch: Linkage Disequilibrium in Four Ethnically Diverse Human Populations: Selection and Demographic Effects

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0073054Thomson & MatherThe genome wide pattern of nonrandom association between different alleles of two genes, called linkage disequilibrium (LD), is not well understood. Recent work in a Caucasian population revealed a heterogeneous distribution of LD, a pattern consistent with the action of natural selection on genes in some regions. This study will determine whether LD is distributed similarly in ethnically diverse human populations and will evaluate the effects of demography on the distribution of LD by characterizing LD nine genomic regions in three diverse human populations. To measure LD, allelic associations will be determined for 103 genetic markers, chosen using the data available from the Human Genome Project.This study is a comparative characterization of LD in several human populations that will aid in understanding genomic evolution. Regions of the human genome that show high levels of LD in several ethnically diverse populations are likely to contain genes experiencing selection in the human species. Discovering genes which have experienced selection is relevant to the study of disease and aids in understanding human biological history. Knowledge about how LD depends on demography will aid in deciding which populations are appropriate to use for LD mapping of genes responsible for complex diseases and traits.