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

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 diagnostics, forensics, paternity analysis and population diversity studies. The D1S80 locus has been extensively investigated in many populations but studies on the UK and Indian subcontinent populations are limited.

This study aims to enlarge our understanding of genetic variation at the D1S80 locus in the populations of the UK and the Indian subcontinent. Also, the spectrum of genetic variation at this locus in world populations is analysed.

Six geographically and ethnically diverse populations were genotyped for the D1S80 locus using the polymerase chain reaction (PCR) technique. Two UK populations were from the East Midlands and North East England, while Brahmins, Parsis, Sinhalese and Moors represented the Indian subcontinent populations. In addition, allele frequency data of the present study were compared with 78 world populations using different methods of multivariate analyses to document level and extent of genetic diversity.

All study populations were in Hardy-Weinberg equilibrium. A trimodal distribution (alleles 18, 24 and 31) was observed in four populations (North East England, East Midlands, Brahmins and Parsis). The Sinhalese and the Moors had different trimodal distributions. The overall heterozygosity and the level of variation are comparable to many Caucasian populations. Multivariate analyses (correspondence analysis and multidimensional scaling analysis) provided similar results in differentiation of major ethnic population groups.

Since D1S80 variation shows considerable homogeneity within a given ethnic group, but marked variation among them, it is a useful anthropological marker for the differentiation of these populations.