Mutation analysis for newly suggested 30 Y-STR loci with high mutation rates in Chinese father-son pairs.
Mutation analysis for newly suggested 30 Y-STR loci with high mutation rates in Chinese father-son pairs.
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新提出的30个中国父子对高突变率Y-STR位点的突变分析
DOI：
10.1038/s41598-022-20014-z
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发表时间：
2022-09-20
影响因子：
4.6
通讯作者：
Hou, Yiping
中科院分区：
文献类型：
--
作者：
Wang, Fei;Song, Feng;Wang, Xindi;Song, Mengyuan;Zhou, Yuxiang;Liu, Jing;Wang, Zheng;Hou, Yiping
快速突变Y染色体短串联重复序列（RM Y染色体短串联重复序列）具有很大的潜力，以区分男性亲属，实现男性身份。然而，由于最初确定的14个RM Y-STR数量很少，法医应用受到很大限制。最近，随着12个新的RM Y-STR的出现，引入了一个名为RMplex的集成面板，该面板包含所有26个RM Y-STR和4个快速突变的Y-STR（FM Y-STR）。为了获得中国人群中30个新提出的Y-STR的突变率和父子分化率的第一批数据，我们对307对DNA证实的中国父亲对进行了经验性突变研究。以前报道的中国和欧洲人群中14个RM Y-STR的突变率被汇总并与我们的数据合并。两组的最高减数分裂数分别为4771和2687。5个位点（DYS 570、DYS 399 S1、DYS 547、DYS 612和DYF 403 S1 b）在群体间差异显著。对于覆盖30个Y-STR基因座的新面板，我们的结果也显示了两个群体之间突变率的广泛差异。在中国人群中，10个RM Y-STR基因座的突变率较低（10-3 ~ 10-2/减数分裂），2个FM Y-STR基因座的突变率较高（> 10-2/减数分裂）。9个Y-STR基因座的突变率在中国人群与参考人群之间存在数倍的差异，其中2个基因座的突变率在中国人群中显著高于参考人群，1个基因座的突变率在中国人群中显著低于参考人群（P < 0.05）。在中国人群中检测到18个RM Y-STR（> 10-2/减数分裂）、8个FM Y-STR（5×10-3 ~ 10-2/减数分裂）、3个中度突变Y-STR（MM Y-STR，10-3 ~ 5×10-3/减数分裂）和1个未观察到突变事件的基因座。RMplex对中国人亲子关系的识别率为40.06%，而前14个RMY-STR对中国人亲子关系的识别率仅为20.84%，说明RMplex对区分父系亲属的男性是有益的。未来有必要对不同遗传背景的人群进行研究，以全面估计这些新基因座的突变率。
Rapidly mutating Y-STRs (RM Y-STRs) harbor great potential to distinguish male relatives and achieve male identification. However, forensic applications were greatly limited by the small number of the initially identified 14 RM Y-STRs. Recently, with the emergence of 12 novel RM Y-STRs, an integrated panel named RMplex was introduced, which contains all 26 RM Y-STRs and four fast mutating Y-STRs (FM Y-STRs). To obtain the first data on the mutation rates and father-son differentiation rates of the 30 newly proposed Y-STRs in Chinese populations, we performed an empirical mutation study on 307 DNA-confirmed Chinese paternal pairs. Previously reported mutation rates for 14 RM Y-STRs in Chinese and European populations were pooled and merged with our data. The highest meiosis number for the two groups reached 4771 and 2687, respectively. Five loci showed significant differences between the populations (DYS570, DYS399S1, DYS547, DYS612, and DYF403S1b). For the new panel covering 30 Y-STR loci, our results show extensive differences in the mutation rates between the two populations, as well. 10 RM Y-STR loci showed relatively low mutation rates (10–3–10–2 per meiosis) and 2 FM Y-STR loci had rapid mutation rates (> 10–2 per meiosis) in the Chinese population. Several-fold differences in mutation rates were found in nine Y-STR loci between the Chinese and reference populations, with two loci having significantly higher mutation rates and one locus with a significantly lower mutation rate in the Chinese population (P < 0.05). Eighteen RM Y-STRs (> 10–2 per meiosis), 8 FM Y-STR loci (5×10–3-10–2 per meiosis), 3 moderately mutating Y-STRs (MM Y-STRs, 10–3-5×10–3 per meiosis), and one locus with no observed mutation events were identified in the Chinese population. 40.06% of the Chinese paternity pairs were discriminated with RMplex while only 20.84% with the initial 14 RM Y-STRs, indicating that RMplex is beneficial for distinguishing paternally related males. Future studies on populations of different genetic backgrounds are necessary to obtain comprehensive estimates of mutation rates at these new loci.
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影响因子：
2.7
作者：
WALSH, PS;METZGER, DA;HIGUCHI, R
通讯作者：
HIGUCHI, R
影响因子：
3.7
作者：
Ravasini F;D'Atanasio E;Bonito M;Bonucci B;Della Rocca C;Berti A;Trombetta B;Cruciani F
通讯作者：
Cruciani F
DOI：
10.1073/pnas.1418652112
发表时间：
2015-03-17
影响因子：
11.1
作者：
Harris, Kelley
通讯作者：
Harris, Kelley
影响因子：
3.1
作者：
Buckleton, J. S.;Krawczak, M.;Weir, B. S.
通讯作者：
Weir, B. S.
影响因子：
9.8
作者：
Ballantyne, Kaye N.;Goedbloed, Miriam;Kayser, Manfred
通讯作者：
Kayser, Manfred