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Human population genetic studies of five hypervariable DNA loci.

Population genetic studies were performed using DNA probes that recognize five hypervariable loci (D2S44, D14S1, D14S13, D17S79, and DXYS14) in the human genome. DNA from approximately 900 unrelated individuals, subdivided into three ethnic groups (American blacks, Caucasians, and Hispanics) were digested with PstI and were successively hybridized to each DNA probe. The number of distinct DNA fragments identified for each of these regions varies from 30 to more than 80. An allele frequency distribution was determined for each locus and each ethnic group. The results show significant differences, between ethnic groups, in the pattern of distribution as well as in the relative frequency of the most common alleles of D2S44, D14S1, and D14S13 but only small differences in others (i.e., D17S79 and DXYS14). The results presented show that the analysis of these loci can have useful applications in population genetics as well as in identity tests.