期刊
INTERNATIONAL JOURNAL OF LEGAL MEDICINE
卷 132, 期 5, 页码 1317-1319出版社
SPRINGER
DOI: 10.1007/s00414-018-1784-x
关键词
Ychromosomal short tandem repeat (Y-STR); Mutation; Microsatellites; Rapidly mutating Y-STRs (RMY-STRs); Chinese Han population
资金
- Key Research and Development Program of Zhejiang Province [2017C03026]
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 x 10(-2). DYS458, DYS630, and DYS518 were moderately mutating Y-STRs, with mutation rates ranging from 8 x 10(-3) to 1 x 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.
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