Mutation analysis of 19 autosomal short tandem repeats in Chinese Han population from Shanghai.
Mutation analysis of 19 autosomal short tandem repeats in Chinese Han population from Shanghai.
复制标题
上海汉族人群19个常染色体短串联重复突变分析
DOI：
10.1007/s00414-016-1427-z
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发表时间：
2016
期刊：
影响因子：
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通讯作者：
Jianhui Xie
中科院分区：
文献类型：
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作者：
Chengchen Shao;Mingxi Lin;Zhihan Zhou;Yueqin Zhou;Yiwen Shen;Aimin Xue;Huaigu Zhou;Qiqun Tang;Jianhui Xie
短串联重复序列（STR）基因座的突变受多种因素影响，如性别、年龄和DNA结构。以往的研究表明，不同人群的常染色体STR基因座的突变率不同。重要的是提供人口数据，揭示影响STR突变率评估的潜在因素。本研究通过对5846例亲子鉴定中124,773例亲子间等位基因转移，对19个常染色体STR基因座的突变情况进行了综合分析。共观察到197个突变，包括187个单步突变。观察到的突变率范围从0.15 × 10−3（TH 01）到4.57 × 10−3（FGA），所有19个位点的平均突变率为1.58 × 10−3。此外，STR基因座的平均突变率随着父亲受孕年龄的增加而增加，在不同母亲年龄组中保持相对稳定，这表明父亲受孕年龄是影响STR基因座突变率和群体中父母突变率比值的潜在因素。多维标度分析（MDS）显示，在13个CODIS STR基因座的突变率的民族之间的差异。基于我们的数据，我们的结果支持短等位基因偏向于扩展突变，而长等位基因偏向于收缩突变。本研究结果为STR基因突变的法医遗传学和群体遗传学研究提供了有用的信息。
The mutation of short tandem repeat (STR) loci is affected by several factors, such as sex, age, and DNA architectures. Previous studies have shown a different profile of mutation rates at autosomal STR loci among populations. It is important to provide population data and reveal underlying factors influencing the evaluation of STR mutation rates. In this study, we performed a comprehensive analysis on the mutation of 19 autosomal STR loci through 124,773 parent-child allelic transfers from 5846 paternity testing cases. A total of 197 mutations were observed including 187 single-step mutations. The observed mutation rates ranged from 0.15 × 10−3(TH01) to 4.57 × 10−3(FGA), and the average mutation rate across all the 19 loci was 1.58 × 10−3. Furthermore, the average mutation rate of STR loci increases with the paternal conception ages and remains relatively stable in different maternal age groups, which suggest the profile of paternal conception ages as a potential factor influencing the evaluation of STR mutation rates and the ratio of paternal versus maternal mutation rate in populations. Multidimensional scaling analysis (MDS) shows a difference in the profile of mutation rates at 13 CODIS STR loci among ethnical groups. Based on our data, our results support that short alleles are biased towards expansion mutation and longer alleles favor contraction mutation. In conclusion, our results provide useful information for further investigation on STR mutation in forensic genetics and population genetics.