POPULATION GENETIC-CHARACTERISTICS OF THE D1S80 LOCUS IN 7 HUMAN-POPULATIONS

We have analyzed the allele frequency distribution at the highly polym orphic variable number of tandem repeat (VNTR) locus D1S8O (pMCT118) i n seven ethnic populations (namely, New Guinea Highlanders of Papua Ne w Guinea, Dogrib Indians of Canada, Pehuenche Indians of Chile, Americ an and Western Samoans, Kacharis of Northeast India, and German Caucas ians) using the polymerase chain reaction (PCR) technique. In the pool ed sample of 443 unrelated individuals 20 segregating alleles were det ected. A trimodal pattern of allelic distribution is present in the ma jority of populations and is indicative of the evolutionary antiquity of the polymorphism at this locus. In spite of the observed high degre e of polymorphism (expected heterozygosity 56%-86%), with a single exc eption - the marginally significant P value (0.04) of the ex act test in American Samoans - the genotype distributions in all populations co nform to their respective Hardy-Weinberg expectations. Summary statist ics indicate that, in general, the allele frequency distribution at th is locus may be approximated by the infinite allele model. The data al so demonstrate that alleles that are shared by all populations have th e highest average frequency within populations. Furthermore, the kinsh ip bioassay analysis demonstrates that the extensive variation observe d at the D1S80 locus is at the interindividual within population level , which dwarfs any interpopulation allele frequency variation, consist ent with the population dynamics of hypervariable polymorphisms. These characteristics of the D1S80 locus make it a very useful marker for p opulation genetic research, genetic linkage studies, forensic identifi cation of individuals, and for determination of biological relatedness of individuals.