法医学杂志

法医学杂志 ›› 2018, Vol. 34 ›› Issue (4): 411-416.DOI: 10.12116/j.issn.1004-5619.2018.04.014

• 技术与应用 • 上一篇    下一篇

30个Y-STR基因座在中国汉族人群中的多态性与突变

吴微微1，苏艳佳1，梅兴林2，吕德坚3，周  翔2，郝宏蕾1，任文彦1，刘  冰4   

  1. 1. 浙江省公安物证鉴定中心 浙江省刑事科学技术应用研究重点实验室，浙江 杭州 310009； 2. 浙江安宁生物科技有限公司，浙江 嘉兴 314000； 3. 中山大学中山医学院法医学系，广东 广州 510089； 4. 公安部物证鉴定中心，北京 100038
  • 发布日期:2018-08-25 出版日期:2018-08-28
  • 作者简介:吴微微（1971—），女，主任法医师，主要从事法庭科学DNA检案与研究；E-mail：weiweiw2000@163.com
  • 基金资助:
    浙江省重点研发计划资助项目（2017C03026）

Genetic Polymorphisms and Mutations of 30 Y-STR Loci in Chinese Han Population

WU Wei-wei1, SU Yan-jia1, MEI Xing-lin2, L?譈 De-jian3, ZHOU Xiang2, HAO Hong-lei1, REN Wen-yan1, LIU Bing4   

  1. 1. Zhejiang Key Laboratory of Forensic Science and Technology, Institute of Forensic Science, Department of Zhejiang Public Security, Hangzhou 310009, China; 2. Higene ScienTech Incorporation, Jiaxing 314000, China; 3. Department of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, Guang- zhou 510089, China; 4. Institute of Forensic Science, Ministry of Public Security, PRC, Beijing 100038, China
  • Online:2018-08-25 Published:2018-08-28

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摘要： 目的 调查30个Y-STR基因座在中国汉族男性人群中的遗传多态性和突变情况，研究其法医学应用效能。 方法 应用自行建立的30个Y-STR基因座检测系统对中国汉族人群1 005名男性无关个体和1 008对父子（1 949人）的血样进行Y-STR分型，统计各基因座的群体遗传学参数与突变情况。 结果 1 005名中国汉族男性无关个体共检出983种单倍型，其中963种仅检出1次，总体单倍型多样性（HD）和识别能力（DC）分别为0.999 955和0.978 109。30个Y-STR基因座共检出340个等位基因，基因多样性（GD）为0.410 3~0.952 3，24个基因座GD值大于0.6。1 008对父子共有30 269次等位基因传递，68对父子仅1个基因座发生突变，3对父子的突变同时发生在2个基因座上。在71对父子间涉及的26个基因座中观察到74次突变，平均突变率为2.4×10-3［95% CI为（1.9×10-3，3.1×10-3）］，其中一步突变73次（98.6%），两步突变1次（1.4%）。 结论 该30个Y-STR基因座复合扩增体系在中国汉族男性人群中具有较高的遗传多态性及较低的突变率，在Y-STR数据库建设和群体遗传学研究中具有重要价值。

关键词: 法医遗传学, 多态现象, 遗传, 突变, Y染色体, 短串联重复

Abstract: Objective To investigate the genetic polymorphisms and mutations of 30 Y-STR loci in Chinese Han males and to evaluate its forensic application. Methods The DNA extracted from blood samples of 1 005 unrelated males and 1 008 father-son pairs （1 949 individuals in all） in Chinese Han population were typed using developed 30 Y-STR loci identification system. The parameters of population genetics and the mutation rates of each locus were analysed statistically. Results A total of 983 haplotypes were found in 1 005 unrelated males from Chinese Han population, of which 963 were unique. The overall haplotype diversity （HD） and discrimination capacity （DC） were 0.999 955 and 0.978 109, respectively. Totally 340 alleles were detected on 30 Y-STR loci, the value of gene diversity （GD） ranged from 0.410 3 to 0.952 3. The GD values of 24 out of the 30 loci were over 0.6. There were 30 269 allele transfers in 1 008 father-son pairs, one mutation in 68 father-son pairs, and the mutation of three father-son pairs occurred at two loci. On 26 Y-STR loci, 74 mutations were detected in 71 father-son pairs. The average mutation rates were 2.4×10-3 （95% CI： 1.9×10-3-3.1×10-3）. Seventy-three mutation events were one-step mutation （98.6%）, 1 mutation event was two-step mutation （1.4%）. Conclusion The multiplex PCR system with 30 Y-STR loci has high genetic polymorphism and low mutation rates in Chinese Han males. Therefore, the system shows important values in Y-STR database construction and population genetic research.

Key words: forensic genetics, polymorphism, genetic, mutation, Y chromosome, short tandem repeat