法医学杂志

法医学杂志 ›› 2019, Vol. 35 ›› Issue (4): 448-454.DOI: 10.12116/j.issn.1004-5619.2019.04.014

• 技术与应用 • 上一篇    下一篇

苏州市吴江地区人群Y染色体STR和SNP的遗传结构分析

吴泽1，2， 陈天发2， 曾志凡2， 张义为1， 汤真1， 苏开元1， 范辰韵1， 李士林1   

  1. 1. 复旦大学生命科学学院，上海 200438； 2. 苏州市吴江区公安局，江苏 苏州 215200
  • 发布日期:2019-08-25 出版日期:2019-08-28
  • 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:吴泽（1979—），男，硕士研究生，主检法医师，主要从事DNA检验；E-mail：dandanbaobao521@163.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）

Genetic Structure Analysis of Y-Chromosome STR and SNP in Population of Wujiang Area, Suzhou City

WU Ze1,2, CHEN Tian-fa2, ZENG Zhi-fan2, ZHANG Yi-wei1, TANG Zhen1, SU Kai-yuan1, FAN Chen-yun1, LI Shi-lin1   

  1. 1. School of Life Sciences, Fudan University, Shanghai 200438, China; 2. Wujiang District Public Security Bureau of Suzhou, Suzhou 215200, Jiangsu Province, China
  • Online:2019-08-25 Published:2019-08-28

PDF (PC)

835

摘要： 目的 分析苏州市吴江地区男性汉族人群Y染色体STR和SNP的基因分型，探索吴江地区人群的遗传结构，以进一步发掘具有该地区特异性的Y-SNP遗传标记祖先单倍群。 方法 随机采集472名吴江地区汉族男性个体的血样，采用YfilerTM Plus PCR扩增试剂盒进行基因分型，通过直接计算法得出各基因座的等位基因频率和单倍型频率，用Y-Predictor软件推测各样本的Y-SNP单倍群，并通过扩增阻滞突变系统聚合酶链反应（amplification refractory mutation system-polymerase chain reaction，ARMS-PCR）进行实验验证。 结果 472名吴江地区汉族男性群体的27个Y-STR遗传标记中，共检出453种单倍型，单倍型多样性（haplotype diversity，HD）为0.997 696 93，其中基因多样性（gene diversity，GD）值最高的是DYF387S1a/b（0.953 1）、最低的是DYS438（0.321 8）。根据472个样本27个Y-STR的基因分型数据，推测并实验验证得到来自C、D、N、O和Q等单倍群下游的132种单倍群。 结论 本研究基于Y染色体STR单倍型，通过Y-Predictor软件预测Y-SNP单倍群并利用ARMS-PCR进行验证，引入Y-SNP遗传标记，实现了对吴江地区3个镇区人群男性家系的精细遗传结构解析。

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, 苏州

Abstract: Objective To analyze the genetic phenotypes of Y-chromosome STR and SNP in Han male population of Wujiang area, Suzhou City and explore the genetic structure of population of Wujiang area for further examination of regional-specific Y-SNP genetic markers ancestor haplogroups. Methods Blood samples of 472 Wujiang area Han males were randomly collected and genotyped by YfilerTM Plus PCR Amplification Kit. The allele frequencies and haplotype frequencies of each locus were obtained using the direct calculation method. Y-SNP haplogroups of each sample were estimated using Y-Predictor software and verified through experiments by amplification refractory mutation system-polymerase chain reaction （ARMS-PCR）. Results A total of 453 haplotypes were found in the 27 Y-STR genetic markers in 472 Han males of Wujiang area. The haplotype diversity （HD） was 0.997 696 93, among which, the highest gene diversity （GD） value was DYF387S1a/b （GD=0.953 1） and the lowest was DYS438 （GD=0.321 8）. Based on genotyping data of 27 Y-STRs and 472 samples, 132 haplogroups from C, D, N, O and Q, etc downstream Y-SNP haplogroups were estimated and then verified through experiments. Conclusion This study is based on Y-chromosome STR haplotypes, and predicts Y-SNP haplogroups by Y-Predictor software, then uses ARMS-PCR to verify. Y-SNP genetic markers were introduced to achieve precise analysis of the genetic structure of male families in population of three towns in Wujiang area.

Key words: orensic genetics, short tandem repeat, single nucleotide polymorphism, Y chromosome, genetic structures, haplogroup, Han nationality, Suzhou