法医学杂志

法医学杂志 ›› 2017, Vol. 33 ›› Issue (3): 239-243.DOI: 10.3969/j.issn.1004-5619.2017.03.005

• 论著 • 上一篇    下一篇

MALDI-TOF-MS对Y染色体上66个二等位基因的检测

宋雨桐1，2，李  莉1，张立男1，2，朱如心1，柳  燕1，林  源1   

  1. （1. 司法部司法鉴定科学技术研究所 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:2017-06-25 出版日期:2017-06-28
  • 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:宋雨桐（1992—），女，硕士研究生，主要从事法医物证学研究；E-mail：stystudy@yeah.net
  • 基金资助:

    “十三五”国家重点研发计划资助项目（2016YFC080 0701）；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）；中央级公益性科研院所资助项目（GY2014G-6）

Sixty-six Biallelic Genetic Markers on Y chromosome by MALDI-TOF-MS

SONG YU-TONG1,2, LI LI1, ZHANG LI-NAN1,2, ZHU RU-XIN1, LIU YAN1, LIN YUAN1   

  1. （1. Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Institute of Forensic Science, Ministry of Justice, PRC, Shanghai 200063, China; 2. East China University of Political Science and Law, Shanghai 200063, China）
  • Online:2017-06-25 Published:2017-06-28

被引次数

2

摘要： 目的 分析华东地区汉族人群Y染色体上66个二等位基因遗传标记的多态性，并评价其法医学应用价值。 方法 采用多重PCR联合基质辅助激光解吸/电离-飞行时间质谱（matrix-assisted laser desorption/ ionization time-of-flight mass spectrometry，MALDI-TOF-MS）技术对华东地区205名汉族男性无关个体Y染色体上66个二等位基因遗传标记进行分型研究，使用直接计数法统计待测位点的等位基因频率，用公式计算基因多样性和单倍型多样性，用Arlequin v3.5.2.2软件检测该体系的单倍型并且进行群体遗传学比较。 结果 其中60个二等位基因遗传标记在华东地区汉族男性人群中呈多态性分布，基因多样性为0.038 5~0.501 9，共检测到85种单倍型，单倍型多样性为0.970 3。部分SNP位点的等位基因分布在华东地区汉族人群和新疆汉族人群、广东汉族人群差异具有统计学意义。 结论 60个二等位基因遗传标记及其检测体系在亲权鉴定和个体识别中可补充提供遗传信息，MALDI-TOF-MS技术可以进行二等位基因遗传标记的分型检测。
关键词： 法医遗传学；Y染色体；多态现象，遗传；基质辅助激光解吸电离；单核苷酸多态性；插入/缺失

Abstract: Objective To analyse the genetic polymorphisms of 66 biallelic genetic markers on Y chromosome in Eastern Chinese Han population, and evaluate their values in forensic application. Methods Genotyping of 66 biallelic genetic markers on Y chromosome was studied in 205 unrelated males of Eastern Chinese Han population by multiplex PCR combined matrix-assisted laser desorption/ionization time-of-flight mass spectrometry （MALDI-TOF-MS）. The allele frequencies on the loci to be tested were calculated by direct counting method, and the gene diversity （GD） and haplotype diversity （HD） were calculated by corresponding formulas. The haplotypes of this system were tested by software Arlequin v3.5.2.2 and the comparison of population genetics were analyzed. Results A total of 60 biallelic genetic markers on Y chromosome were polymorphic in males of Eastern Chinese Han population, and the ranges of GD were from 0.038 5 to 0.501 9. Eighty-five different haplotypes were observed and the HD was 0.970 3. The differences of partial SNP loci between the Han population of Eastern China and that of Xinjiang and Guangdong were statistically significance. Conclusion Sixty biallelic genetic markers and the detection system can complementally provide genetic information in kinship testing and individual identification. The MALDI-TOF-MS technology is able to type biallelic genetic markers.

Key words: forensic genetics, Y chromosome, polymorphism, genetic, matrix-assisted laser desorption-ionization, single nucleotide polymorphism, insertion/deletion