An evaluation of molecular characterization and population structure of Uttarakhand, India

Abstract

The northern Indian state of Uttarakhand is a landmark of culture, traditional values and natural beauty. It is located on the western side of the Himalayas resulting in geographic semi-isolation, which draws attention to the genomic diversity of the population of Uttarakhand. To explore the genomic structure and forensic characterization, randomly 427 unrelated individuals from Uttarakhand were selected. A wide range of allele frequency (0.001 to 0.415) and observed heterozygosity (0.693 to 0.888) was observed, which points towards a high level of genetic mixing instead of population isolation. The allelic data of 15 autosomal STR markers were found to be under the Hardy-Weinberg Equilibrium. The population of Uttarakhand showed genetic closeness with geographically close populations, i.e., the populations of Uttar Pradesh, central India and north-western India as compared to geographically distant populations of eastern and southern India, as well as western and eastern Asian populations. The locus D2S1338 (3p21.31) was found to be the most informative marker among all the studied loci with the highest discrimination power (PD = 0.971) and polymorphic information content (PIC = 0.864), while locus TPOX (2p25.3) was found to be the least informative with the lowest discrimination power (PD = 0.862) and polymorphism information content (PIC = 0.654). The combined value of discrimination power (CPD = 1), power of exclusion (CPE = 0.999999023), paternity index (CPI = 9.40 × 105) and matching probability (CPM = 2.10 × 10−18) showed that the tested loci are very useful for personal identification, paternity testing and disaster victim identification.