Single Gene Disorder(SGD) Sep 24, 2014

TRINUCLEOTIDE REPEATS AND HAPLOTYPES AT THE HUNTINGTIN LOCUS IN AN INDIAN SAMPLE OVERLAPS WITH EUROPEAN HAPLOGROUP A

Huntington’s disease (HD), an autosomal dominant neurodegenerative syndrome, has a world-wide distribution. An estimated 2.5-10/100,000 people of European ancestry are affected with HD, while the Asian populations have lower prevalence (0.6-3.8/100,000). The epidemiology of HD is not well described in India, and the distribution of the pathogenic CAG expansion, and the associated haplotype, in this population needs to be better understood. This study demonstrates a distribution of CAG repeats, at the HTT locus, comparable to the European population in both normal and HD affected chromosomes. Further, we provide an evidence for similarity of the HD halpotype in Indian sample to the European HD haplogroup. Fig.1A: Mode of inheritance based on detailed clinical interviews of symptomatic HD individuals and family members. Number of individuals (%) Fig.1B: Distribution of CAG repeats at the lower allele (LA) in healthy controls, HD symptomatic and pre symptomatic ...