Diversity of 26-locus Y-STR haplotypes in a Nepalese population sample: Isolation and drift in the Himalayas

Emma J Parkin,Thirsa Kraayenbrink,Jean Robert M.L Opgenort,George L Van Driem,Nirmal Man Tuladhar,Peter De Knijff,Mark A Jobling

doi:10.1016/j.forsciint.2006.05.007

Abstract

Twenty-six Y-chromosomal short tandem repeat (STR) loci were amplified in a sample of 769 unrelated males from Nepal, using two multiplex polymerase chain reaction (PCR) assays. The 26 loci gave a discriminating power of 0.997, with 59% unique haplotypes, and the highest frequency haplotype occurring 12 times. We identified novel alleles at four loci, microvariants at a further two, and nine examples of amelogenin-Y deletions (1.2%). Comparison with a similarly sized Bhutanese sample typed with the same markers suggested histories of isolation and drift, with drift having a greater effect in Bhutan. Extended (11-locus) haplotypes for the Nepalese samples have been submitted to the Y-STR Haplotype Reference Database (YHRD).

Highlights

The analysis of multiple Y-chromosomal short tandem repeats (STRs) provides informative male-specific DNA profiles in forensic analysis
As well as possessing high discriminating power in distinguishing individuals, haplotypes defined by STRs can provide information about likely geographical origin, since they are often concentrated in particular populations or regions
In this study we describe alleles at 26 Y-STRs, and properties of the haplotypes they define, in a large sample of a previously unrepresented population, that of Nepal in the Himalayas

Summary

Introduction

The analysis of multiple Y-chromosomal short tandem repeats (STRs) provides informative male-specific DNA profiles in forensic analysis. As well as possessing high discriminating power in distinguishing individuals, haplotypes defined by STRs can provide information about likely geographical origin, since they are often concentrated in particular populations or regions. Population databases of Y haplotypes [1] are increasing in size and coverage, greatly contributing to the utility of Y-chromosomal analysis in forensic casework. In this study we describe alleles at 26 Y-STRs, and properties of the haplotypes they define, in a large sample of a previously unrepresented population, that of Nepal in the Himalayas. Eleven-locus haplotypes have been submitted to the Y-STR Haplotype Reference Database (YHRD), and full data are available from the authors on request. Our report follows guidelines for the publication of population data [2]

Methods

Results

Conclusion