Abstract
Y-chromosomal short tandem repeats (Y-STRs) have been widely used in forensic analysis and population genetics. With low to moderate mutation rates, conventional Y-STR panels, including commercially available Y-STR kits, enable the identification of male pedigrees but typically fail to differentiate related male individuals. The introduction of rapidly mutating Y-chromosomal short tandem repeats (RM Y-STRs) with higher mutation rates (μ > 10−2) has been demonstrated to increase the discrimination capacity of unrelated men and the differentiation rate of related men compared with standard Y-STRs. To date, several studies have been performed worldwide. Here, 260 father–son pairs from Chinese Yi population were investigated, and 18.8% of them were differentiated with the 13 RM Y-STR markers, which was close to the theoretical estimate of 19.5% based on the mutation rates of these markers. Among the 57 mutations observed, repeat gains were more common than repeat losses (1.48:1), and one-step mutations were more common than two-step mutations (27.5:1). Locus-specific mutation rates ranged from < 3.85 × 10−3 (95% CI 0.00–1.41 × 10−2) to 3.85 × 10−2 (95% CI 1.86 × 10−2–6.96 × 10−2), with an average mutation rate of 1.46 × 10−2 (95% CI 1.11 × 10−2–1.89 × 10−2). Furthermore, we combined the father–son pair data from the present study with the data from the previous studies, generating an overall mutation rate of 1.70 × 10−2. The high differentiation rate obtained in the present study indicates the suitability of RM Y-STRs to distinguish paternal lineages in Chinese Yi population.
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Acknowledgements
We would like to thank the Sichuan Forest Forensic Center for the sample support. This study was supported by grants from the National Natural Science Foundation of China (Nos. 81671871), Scientific Research Starting Foundation for Doctor of North Sichuan Medical College (CBY16-QD05), and Science and Technology Strategic Cooperation Project of Nanchong and North Sichuan Medical College (NSMC20170441).
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Wang, Q., Jin, B., An, G. et al. Rapidly mutating Y-STRs study in Chinese Yi population. Int J Legal Med 133, 45–50 (2019). https://doi.org/10.1007/s00414-018-1894-5
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DOI: https://doi.org/10.1007/s00414-018-1894-5