Haplotypic polymorphisms and mutation rate estimates of 22 Y-chromosome STRs in the Northern Chinese Han father-son pairs.
Haplotypic polymorphisms and mutation rate estimates of 22 Y-chromosome STRs in the Northern Chinese Han father-son pairs.
复制标题
中国北方汉族父子对 22 个 Y 染色体 STR 的单倍型多态性和突变率估计。
DOI：
10.1038/s41598-018-25362-3
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发表时间：
2018-05-08
影响因子：
4.6
通讯作者：
Yan J
中科院分区：
文献类型：
--
作者：
Yang Y;Wang W;Cheng F;Chen M;Chen T;Zhao J;Chen C;Shi Y;Li C;Chen C;Liu Y;Yan J
Y染色体短串联重复序列（Y- strs）分析已广泛应用于法医鉴定、亲属关系检测和种群进化等领域。对单倍型和突变率的准确理解将有利于这些应用。在这项工作中，我们分析了来自中国北方汉族人群的1123份男性样本，其中包括578对dna确认的父子对，在22个Y-STRs位点。共观察到537个单倍型，计算总单倍型多样性为1.0000±0.0001。除了只有两个单倍型被观察到两次外，其余的535个单倍型都是唯一的。在13872例父本减数分裂中共观察到47个突变。每个位点的突变率估计范围为0.0 ~ 15.6 × 10 - 3，平均突变率为3.4 × 10 - 3 （95% CI 2.5 ~ 4.5 × 10 - 3）。在22个位点中，DYS449、DYS389 II和DYS458最容易发生突变。该研究增加了Y-STR单倍型多样性和突变率的数据，对种群和法医遗传学具有重要意义。
Y chromosome Short tandem repeats (Y-STRs) analysis has been widely used in forensic identification, kinship testing, and population evolution. An accurate understanding of haplotype and mutation rate will benefit these applications. In this work, we analyzed 1123 male samples from Northern Chinese Han population which including 578 DNA-confirmed father-son pairs at 22 Y-STRs loci. A total of 537 haplotypes were observed and the overall haplotype diversity was calculated as 1.0000 ± 0.0001. Except that only two haplotypes were observed twice, all the rest of the 535 were unique. Furthermore, totally 47 mutations were observed during 13,872 paternal meiosis. The mutation rate for each locus estimates ranged from 0.0 to 15.6 × 10−3 with an average mutation rate 3.4 × 10−3 (95% CI 2.5–4.5 × 10−3). Among the 22 loci, DYS449, DYS389 II and DYS458 are the most prone to mutations. This study adds to the growing data on Y-STR haplotype diversity and mutation rates and could be very useful for population and forensic genetics.
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影响因子：
2.7
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