Genetic characterisation of 13 rapidly mutating Y-STR loci in 100 father and son pairs from South and East Turkey

Abstract

Background: Rapidly mutating (RM) Y-STRs recently emerged as a useful genotyping tool that can counteract problems normally associated with traditional Y-STRs. For instance, RM Y-STRs have the potential to differentiate Y-chromosomes from both close and distant paternal relatives. Aim: Characterisation of 13 RM Y-STR loci in a new sample pool from Turkey in terms of population genetic data and mutation rates. Subjects and methods: One hundred father–son pairs from South and East Turkey were genotyped. Based on the 99 father haplotypes unique to the current study, statistical parameters of forensic interest were computed. Nei’s DA distances among 112 global population datasets were estimated and visualised by phylogenetic and multidimensional scaling (MDS) analyses. Results: Fifteen father–son pairs were found to differ at a single locus and four at two loci, resulting in a differentiation rate of 19%. Mutations were observed at 10 out of 13 loci, with rates ranging from 1 × 10−2 to 6 × 10−2. Conclusion: Mutation rates and differentiation rates between the father–son pairs were similar to those from the literature. In contrast to previous work, novel phylogenetic tree construction results based on Nei’s DA distances suggested a close correlation between the geographic and genetic distances observed, except for known cases of past mass migration events.

Keywords

• rm y-strs
• father–son pairs
• mutation rates
• genetic-geographic structuring