Rapidly Mutating Y Chromosomal STRs in Deep-Rooted Endogamous Pedigrees

Y-chromosome short tandem repeat polymorphisms (Y-STRs) are important in many areas of human genetics. Y chromosomal STRs being normally utilized in the field of forensic exhibit low haplotype diversity in endogamous populations and fail to discriminate among male relatives from same pedigree. Rapidly mutating Y-STRs (RM Y-STRs) have been paid much attention in last decade. These 13 RM Y STRs have high mutation rates (>10-2) and have considerably higher haplotype diversity and discrimination capacity than conventionally used Y-STRs showing remarkable power, when it comes to differentiation in paternal lineages in endogamous populations. Previously, we have analyzed 2–4 generation, 99 pedigrees covering 1568 pairs of men covering 1–6 meioses from all over Pakistan and 216 male relatives from 18 deep rooted endogamous Sindhi pedigrees covering 1-7 meioses. Here we are presenting 861 pairs of men from 63 endogamous pedigrees covering 1-6 meioses from Punjabi population of Punjab, Pakistan. Mutations were frequently observed at DYF399 and DYF403 while no mutation was observed at DYS526a/b. The rate of differentiation ranged from 29.70% (first meiosis) to 80.95% (fifth meiosis) while overall (1 to 6 meiosis) differentiation was 59.46%. Combining previously published data with newly generated data, an overall differentiation rate was 38.79% based on 5176 pairs of men related by 1–20 meioses, while Y-filer differentiation was 9.24% based on 3864 pairs. Using father-son pair data from the present and previous studies, we also provide updated RM Y-STR mutation rates.