D1S80 distribution in world populations with new data from the UK and the Indian sub-continent

Background: Highly polymorphic genetic markers including variable number of tandem repeats (VNTRs), amplified fragment length polymorphisms (AMP-FLPs) and short tandem repeats (STRs) have been used successfully in disease dia gnostics, forensics, paternity analysis and population diversity studies. T he D1S80 locus has been extensively investigated in many populations but st udies on the UK and Indian subcontinent populations are limited. Aim: This study aims to enlarge our understanding of genetic variation at t he D1S80 locus in the populations of the UK and the Indian subcontinent. Al so, the spectrum of genetic variation at this locus in world populations is analysed. Subjects and methods: Six geographically and ethnically diverse populations were genotyped for the D1S80 locus using the polymerase chain reaction (PC R) technique. Two UK populations were from the East Midlands and North East England, while Brahmins, Parsis, Sinhalese and Moors represented the India n subcontinent populations. In addition, allele frequency data of the prese nt study were compared with 78 world populations using different methods of multivariate analyses to document level and extent of genetic diversity. Results: All study populations were in Hardy-Weinberg equilibrium. A trimod al distribution (alleles 18, 24 and 31) was observed in four populations (N orth East England, East Midlands, Brahmins and Parsis). The Sinhalese and t he Moors had different trimodal distributions. The overall heterozygosity a nd the level of variation are comparable to many Caucasian populations. Mul tivariate analyses (correspondence analysis and multidimensional scaling an alysis) provided similar results in differentiation of major ethnic populat ion groups. Conclusions: Since D1S80 variation shows considerable homogeneity within a given ethnic group, but marked variation among them, it is a useful anthrop ological marker for the differentiation of these populations.