法医学杂志

法医学杂志 ›› 2020, Vol. 36 ›› Issue (4): 538-544.DOI: 10.12116/j.issn.1004-5619.2020.04.020

• 技术与应用 • 上一篇    下一篇

常熟地区人群Y染色体STR和SNP遗传结构分析

汤晓1，2， 田君哲1， 张义为1， 殷才湧1， 汤真1， 李帅1， 姚均1， 黄嘉伟2， 李士林1   

  1. 1. 复旦大学生命科学学院，上海 200438； 2. 常熟市公安局，江苏 常熟 215500
  • 发布日期:2020-08-25 出版日期:2020-08-28
  • 通讯作者: 李士林，男，副教授，主要从事法医遗传学研究；E-mail：lishilin@fudan.edu.cn
  • 作者简介:汤晓（1989—），男，硕士研究生，主要从事法医DNA检验；E-mail：417217280@qq.com
  • 基金资助:
    公安部物证鉴定中心开放课题资助项目（2015FGKFKT01）；教育部科学技术研究资助项目（113022A）；上海市犯罪现场证据重点实验室开放课题资助项目（2015-shxky-008）

Genetic Structure Analysis of Y Chromosome STR and SNP in Population of Changshu

TANG Xiao1,2, TIAN Jun-zhe1, ZHANG Yi-wei1, YIN Cai-yong1, TANG Zhen1, LI Shuai1, YAO Jun1, HUANG Jia-wei2, LI Shi-lin1   

  1. 1. School of Life Sciences, Fudan University, Shanghai 200438, China; 2. Changshu Public Security Bureau, Changshu 215500, Jiangsu Province, China
  • Online:2020-08-25 Published:2020-08-28

PDF (PC)

650

摘要：  目的 通过对常熟地区家系特异性核心单倍群和区域特异性遗传结构进行分析，为构建特定地区的Y染色体数据库提供理论基础。 方法 采集常熟地区1 702名汉族男性无关个体的血样，使用YfilerTM Plus PCR扩增试剂盒对27个Y-STR进行基因分型，再用Y-Predictor软件推测各样本的Y-SNP单倍群，并选取部分样本通过扩增受阻突变系统聚合酶链反应（amplification refractory mutation system-polymerase chain reaction，ARMS-PCR）进行验证。 结果 1 702例样本的27个Y-STR遗传标记共检出1 556种单倍型，单倍型多样性（haplotype diversity，HD）值为0.999 827，基因多样性（gene diversity，GD）值最高的是DYS385（0.933），最低的是DYS438（0.409）。通过Y-Predictor软件确定全部样本来自C、D、N、O、Q和R下游162种细支单倍群。随机选择样本对软件预测结果进行验证，预测正确率达95.74%。 结论 本研究发现27个Y-STR遗传标记在常熟地区人群中有较高的多态性，具备良好的法医学个体识别和亲权鉴定能力。

关键词: 法医遗传学, 短串联重复, 单核苷酸多态性, Y染色体, 遗传结构, 单倍群, 汉族, 常熟

Abstract: Objective To provide a theoretical basis for building a Y chromosome database in specific regions by analyzing the pedigree specific core haplogroup and region specific genetic structure in Changshu. Methods One thousand seven hundred and two samples from unrelated Han male individuals in Changshu were collected. Then 27 Y-STR were genotyped through YfilerTM Plus PCR Amplification Kit, Y-SNP haplogroup of each sample was speculated using Y-Predictor software and some samples were verified by amplification refractory mutation system-polymerase chain reaction （ARMS-PCR）. Results A total of 1 556 haplotypes were found on the 27 Y-STR genetic markers of the 1 702 samples. The haplotype diversity （HD） value was 0.999 827. DYS385 （0.933） had the highest gene diversity （GD） value while DYS438 （0.409） had the lowest. By the Y-Predictor software, all samples were confirmed to be from 162 sub-haplogroups of C, D, N, O, Q and R. Samples were randomly selected to verify the prediction results by the software and the prediction accuracy of Y-Predictor software was as high as 95.74%. Conclusion This study found that 27 Y-STR genetic markers have relatively high polymorphisms in the Changshu population, and have good forensic individual identification and paternity testing ability.

Key words: forensic genetics, short tandem repeat, single nucleotide polymorphism, Y chromosome, genetic structure, haplogroup, Han nationality, Changshu