Mutation rates at 42 Y chromosomal short tandem repeats in Chinese Han population in Eastern China
Mutation analysis of 42 Y chromosomal short tandem repeats (Y-STRs) loci was performed using a sample of 1160 father–son pairs from the Chinese Han population in Eastern China. The results showed that the average mutation rate across the 42 Y-STR loci was 0.0041 (95% CI 0.0036–0.0047) per locus per generation. The locus-specific mutation rates varied from 0.000 to 0.0190. No mutation was found at DYS388, DYS437, DYS448, DYS531, and GATA_H4. DYS627, DYS570, DYS576, and DYS449 could be classified as rapidly mutating Y-STRs, with mutation rates higher than 1.0 × 10−2. DYS458, DYS630, and DYS518 were moderately mutating Y-STRs, with mutation rates ranging from 8 × 10−3 to 1 × 10−2. Although the characteristics of the Y-STR mutations were consistent with those in previous studies, mutation rate differences between our data and previous published data were found at some rapidly mutating Y-STRs. The single-copy loci located on the short arm of the Y chromosome (Yp) showed relatively higher mutation rates more frequently than the multi-copy loci. These results will not only extend the data for Y-STR mutations but also be important for kinship analysis, paternal lineage identification, and family relationship reconstruction in forensic Y-STR analysis.
KeywordsY chromosomal short tandem repeat (Y-STR) Mutation Microsatellites Rapidly mutating Y-STRs (RM Y-STRs) Chinese Han population
This work was financially supported by grants from the Key Research and Development Program of Zhejiang Province (2017C03026).
Compliance with ethical standards
Buccal swab samples of 1160 father–son pairs were taken from individuals in an Eastern Chinese Han population (Zhejiang Province). Informed consent was obtained from the volunteers or legally authorized representatives of all father–son pairs. All procedures performed in this study were approved by the Medical Ethics Committee of the Zhongshan Medical School of Sun Yat-sen University in accordance with the 2013 Helsinki Declaration.
Conflict of interest
The authors declare that there are no conflicts of interest.
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