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. 1994 Oct;55(4):788–808.

Polymorphic Admixture Typing in Human Ethnic Populations

Michael Dean, J Claiborne Stephens, Cheryl Winkler, Deborah A Lomb, Mark Ramsburg, Raleigh Boaze, Claudia Stewart, Lauren Charbonneau, David Goldman, Bernard J Albaugh, James J Goedert, R Palmer Beasley, Lu-Yu Hwang, Susan Buchbinder, Michael Weedon, Patricia A Johnson, Mary Eichelberger, Stephen J O'Brien
PMCID: PMC1918306  PMID: 7942857

Abstract

A panel of 257 RFLP loci was selected on the basis of high heterozygosity in Caucasian DNA surveys and equivalent spacing throughout the human genome. Probes from each locus were used in a Southern blot survey of allele frequency distribution for four human ethnic groups: Caucasian, African American, Asian (Chinese), and American Indian (Cheyenne). Nearly all RFLP loci were polymorphic in each group, albeit with a broad range of differing allele frequencies (δ). The distribution of frequency differences (δ values) was used for three purposes: (1) to provide estimates for genetic distance (differentiation) among these ethnic groups, (2) to revisit with a large data set the proportion of human genetic variation attributable to differentiation within ethnic groups, and (3) to identify loci with high δ values between recently admixed populations of use in mapping by admixture linkage disequilibrium (MALD). Although most markers display significant allele frequency differences between ethnic groups, the overall genetic distances between ethnic groups were small (.066–.098), and <10% of the measured overall molecular genetic diversity in these human samples can be attributed to “racial” differentiation. The median δ values for pairwise comparisons between groups fell between .15 and .20, permitting identification of highly informative RFLP loci for MALD disease association studies.

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Selected References

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