法医学杂志

法医学杂志 ›› 2020, Vol. 36 ›› Issue (3): 341-346.DOI: 10.12116/j.issn.1004-5619.2020.03.009

• 技术与应用 • 上一篇    下一篇

四川汉族人群19个STR常染色体基因座多态性及法医学应用

黄云1，2， 王玉卓2， 宋凤1   

  1. 1. 四川大学华西基础医学与法医学院，四川 成都 610041； 2. 四川求实司法鉴定所，四川 成都 610011
  • 发布日期:2020-06-25 出版日期:2020-06-28
  • 通讯作者: 宋凤，女，副研究员，主要从事法医遗传学研究；E-mail：185029729@qq.com
  • 作者简介:黄云（1984—），男，博士，主要从事法医临床学、法医遗传学研究；E-mail：597346869@qq.com

Polymorphisms of 19 Autosomal STR Loci in Sichuan Han Population and Their Forensic Application

HUANG Yun1,2, WANG Yu-zhuo2, SONG Feng1   

  1. 1. West China School of Basic Medical Sciences & Forensic Medicine, Chengdu 610041, China; 2. Sichuan Qiushi Forensic Service, Chengdu 610011, China
  • Online:2020-06-25 Published:2020-06-28

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摘要： 目的 对四川汉族人群19个常染色体STR基因座的等位基因分布、群体遗传学参数和邻近群体的遗传分析进行研究，评估其在法医学中的应用价值。 方法 应用Goldeneye?? DNA身份鉴定系统20A对1 201例四川汉族无关个体进行19个STR基因座复合扩增及等位基因分型，统计等位基因频率及群体遗传学参数，计算四川汉族与已公开报道的12个群体间的Nei’s遗传距离，进行多维尺度分析、主成分分析及构建系统发生树。 结果 19个STR基因座杂合度为0.617 0~0.915 1，个体识别率为0.777 4~0.986 5，匹配概率为0.013 5~0.222 6，多态信息含量为0.546 4~0.910 5，三联体非父排除率为0.311 8~0.826 3，二联体非父排除率为0.197 9~0.712 1，基因型分布符合Hardy-Weinberg平衡。基于四川汉族与其他12个群体间遗传距离获得的多维尺度分析、主成分分析及系统发生树结果显示，其与湖北汉族相距较近，而与新疆维吾尔族相距最远。 结论 19个常染色体STR基因座在四川汉族人群中具有高度的多态性和较好的鉴别能力，能为该地区法医学个体识别、亲权鉴定和群体遗传学研究提供数据基础。

关键词: 法医遗传学；多态现象, 遗传；短串联重复；遗传, 群体；常染色体；汉族；四川

Abstract: Objective To investigate the allele distribution, population genetics parameters and genetic analysis of neighboring populations of 19 autosomal STR loci in Sichuan Han population, and to evaluate their forensic application value. Methods The Goldeneye?? DNA ID system 20A was used to perform multiplex PCR amplification and allelic gene typing of 19 STR loci in 1 201 unrelated Han individuals from Sichuan Province. Allele frequencies and population genetics parameters were calculated. The Nei’s genetic distances between Sichuan Han population and 12 previously reported populations were analyzed. Multidimensional scaling and principal component analysis were carried out and phylogenetic trees were also constructed. Results The heterozygosity of 19 STR loci ranged from 0.617 0 to 0.915 1, their discrimination power ranged from 0.777 4 to 0.986 5, matching probability ranged from 0.013 5 to 0.222 6, polymorphism information content ranged from 0.546 4 to 0.910 5, probability of exclusion ranged from 0.311 8 to 0.826 3 （triplet） and from 0.197 9 to 0.712 1 （biplet）, and no significant deviations from Hardy-Weinberg equilibrium were observed. Based on the results of multidimensional scaling, principal component analysis and phylogenetic trees of the genetic distances between Sichuan Han population and the other 12 populations, Sichuan Han population was closest to Hubei Han population and was farthest to Xinjiang Uygur population. Conclusion The 19 autosomal STR loci showed a high polymorphism and discriminating ability in Sichuan Han population, which can provide a data foundation for personal identification, paternity test and population genetics study.

Key words: forensic genetics, polymorphism, genetic, short tandem repeat, genetics, population, autosome, Han population, Sichuan