法医学杂志

法医学杂志 ›› 2019, Vol. 35 ›› Issue (1): 23-29，38.DOI: 10.12116/j.issn.1004-5619.2019.01.005

• 论著 • 上一篇    下一篇

71个Y-SNP位点在西北汉族人群的多态性及法医学应用价值

张立男1，2， 宋雨桐1，2， 姜磊1， 朱如心1， 李莉1   

  1. 1. 司法鉴定科学研究院 上海市法医学重点实验室 上海市司法鉴定专业技术服务平台，上海 200063； 2. 华东政法大学，上海 200063
  • 发布日期:2019-02-25 出版日期:2019-02-28
  • 通讯作者: 李莉，女，研究员，硕士研究生导师，主要从事法医物证学科研、检案和教学；E-mail：lil@ssfjd.cn
  • 作者简介:张立男（1992—），男，硕士研究生，主要从事法医物证学研究；E-mail：HitboyZLN@163.com
  • 基金资助:
    “十三五”国家重点研发计划资助项目（2016YFC0800703）；上海市法医学重点实验室资助项目（17DZ2273200）；上海市司法鉴定专业技术服务平台资助项目（16DZ2290900）

Polymorphism and Forensic Application Value of 71 Y-SNP Loci in Han Population of Northwest China

ZHANG Li-nan1,2, SONG Yu-tong1,2, JIANG Lei1, ZHU Ru-xin1, LI Li1   

  1. 1. Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Academy of Forensic Science, Shanghai 200063, China; 2. East China University of Political Science and Law, Shanghai 200063, China
  • Online:2019-02-25 Published:2019-02-28
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摘要： 目的 分析Y染色体上71个SNP位点在西北地区汉族人群的多态性，评价其法医学应用价值，并整合前期研究成果，筛选出适用于华东、华南、西北地区汉族人群法医学检验的Y-SNP位点。 方法 采用多重聚合酶链反应（polymerase chain reaction，PCR）和基质辅助激光解吸/电离-飞行时间质谱（matrix-assisted laser desorption/ionization time-of-flight mass spectrometry，MALDI-TOF-MS）技术对西北地区202名汉族男性无关个体进行71个Y-SNP位点的分型，计算等位基因频率和基因多样性（gene diversity，GD）、单倍型多样性（haplotype diversity，HD）值，同时结合前期研究所取得的数据筛选出适用于西北、华南和华东汉族群体的Y-SNP位点。 结果 在所检测的71个位点中，有67个位点在西北汉族男性人群中呈多态性分布，GD值在0.010 0~0.502 2，中度信息量（0.2≤GD<0.3）的位点有22个，高度信息量（GD≥0.3）的位点有25个，同时适用于西北、华南和华东汉族群体的位点有26个。 结论 Y-SNP位点在亲权鉴定和个体识别中具有应用价值，在判断人群分布及迁移信息方面亦具有潜在的应用价值。

 

关键词: 法医遗传学；Y染色体；多态性, 单核苷酸；等位基因；汉族

Abstract: Objective To analyze the polymorphism of 71 SNP loci on Y chromosome in Han population of Northwest China, to assess its forensic application value, and to screen out Y-SNP loci for forensic examination of Han population in East, South, and Northwest China based on the integration of previous research results. Methods Multiplex polymerase chain reaction （PCR） and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry （MALDI-TOF-MS） were performed on 71 Y-SNP loci of 202 unrelated Han male individuals in Northwest China. Gene diversity （GD） and haplotype diversity （HD） values were calculated, and then Y-SNP loci of Han population in East, South, and Northwest China were screened with the combination of data from previous research. Results Among the detected 71 loci, 67 loci were polymorphic in the Northwest Han male population, with GD values 0.010 0-0.502 2. There were 22 and 25 loci with a moderate （0.2≤GD<0.3） and high （GD≥0.3） amount of genetic information, respectively. There were 26 loci for the Han communities in Northwest, South, and East China. Conclusion Y-SNP loci are potential in paternity testing and individual identification, as well as the judgement of population distribution and migration.

Key words: forensic genetics, Y chromosome, polymorphism, single nucleotide, allele frequency, Han nationality

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