Molecular diversity of 23 Y-STR genetic markers in the population of Rajasthan, India

Abstract

India is well-known for its autochthonous cultural, lingual and traditional diversity, which has drawn the attention of researchers to unravel the scientific facts behind it at the genetic level, by using various genetic markers namely, autosomal, X chromosomal, Y chromosomal and mitochondrial DNA markers. Y-STR (Short Tandem Repeat) markers are important tools for investigation of patrilineal relationship among populations along with their proven potential in sexual assault cases. This study was conducted with the aim to investigate the genetic diversity in population of Rajasthan based on Y-STR haplotype data. Randomly selected 202 unrelated male individuals were included in this study belonging to geographical region of Rajasthan. 23 Y-STR genetic haplotype DNA profiles of these individuals were obtained using PowerPlex® Y-23 system. In 202 individuals, two hundred two unique haplotypes were observed which showed extremely high haplotype diversity for all the studied loci with the value of 0.99999999999051. The overall gene diversity (GD) value for all the studied loci was 0.999999999988072. The gene diversity (GD) value was observed to be highest (0.912) at locus DYS385a/b. The studied population was characterized by R1a, R2, Q, H1a1a, L1a, L1c, G, I, J, O and E haplogroups. Interestingly, out of total observed haplogroups, R2 haplogroup had a share of 15% which was previously reported as having a low incidence throughout the country. The outcome of this study will be useful in forensic DNA application, anthropological studies and the data generated from it can be used for strengthening of Indian Y-STR database.