Wu Weiwei, Ren Wenyan, Hao Honglei, Nan Hailun, He Xin, Liu Qiuling, Lu Dejian
Zhejiang Key Laboratory of Forensic Science and Technology, Institute of Forensic Science of Zhejiang Provincial Public Security Bureau, 66# Minsheng Road, Hangzhou, 310009, People's Republic of China.
Faculty of Forensic Medicine, Zhongshan Medical School of Sun Yat-sen University, 74# Zhongshan Road II, Guangzhou, 510089, People's Republic of China.
Int J Legal Med. 2018 Sep;132(5):1317-1319. doi: 10.1007/s00414-018-1784-x. Epub 2018 Jan 31.
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. DYS458, DYS630, and DYS518 were moderately mutating Y-STRs, with mutation rates ranging from 8 × 10 to 1 × 10. 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.
利用来自中国东部汉族人群的1160对父子样本，对42个Y染色体短串联重复序列（Y-STR）位点进行了突变分析。结果显示，42个Y-STR位点的平均突变率为每代每个位点0.0041（95%可信区间0.0036 - 0.0047）。位点特异性突变率在0.000至0.0190之间。在DYS388、DYS437、DYS448、DYS531和GATA_H4未发现突变。DYS627、DYS570、DYS576和DYS449可归类为快速突变的Y-STR，其突变率高于1.0×10。DYS458、DYS630和DYS518为中等突变的Y-STR，突变率在8×10至1×10之间。虽然Y-STR突变的特征与先前研究一致，但在一些快速突变的Y-STR中，我们的数据与先前发表的数据存在突变率差异。位于Y染色体短臂（Yp）上的单拷贝位点比多拷贝位点更频繁地显示出相对较高的突变率。这些结果不仅将扩展Y-STR突变的数据，而且对于法医Y-STR分析中的亲缘关系分析、父系谱系鉴定和家族关系重建也很重要。
