¹Human Genetics Unit, Indian Statistical Institute, Kolkata, West Bengal, India

Correspondence: Professor PP Majumder, Human Genetics Unit, Indian Statistical Institute, 203 Barrackpore Trunk Road, Kolkata 700108, West Bengal, India. Tel: +91 33 25753209 (Office), +91 33 25753212 (Lab); Fax: +91 33 25773049; E-mail: ppm@isical.ac.in

Received 13 July 2006; Revised 16 October 2006; Accepted 17 October 2006; Published online 29 November 2006.

Abstract

The HapMap data are being widely used in human genetic studies. We show by direct resequencing of a 6-kb region of chromosome 1 that the HapMap data are unreliable for this region. This region contains a recent mitochondrial (mt) DNA insertion. The HapMap data report the corresponding mtDNA variation and not the nuclear DNA variation. In view of mtDNA insertions of varying lengths throughout the human genome and considerable segmental duplications, it is necessary to use the HapMap data cautiously.