法医学杂志

法医学杂志 ›› 2014, Vol. 30 ›› Issue (6): 437-440.DOI: 10.3969/j.issn.1004-5619.2014.06.009

• 论著 • 上一篇    下一篇

16个X-STR基因座的连锁不平衡检验和突变率调查

李  莉1，刘俊宏1，2，朱如心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 200063； 2. 华东政法大学研究生教育学院，上海 200042）
  • 发布日期:2014-12-25 出版日期:2014-12-28
  • 作者简介:李莉（1965—），女，湖北监利人，研究员，主要从事法医生物学研究；E-mail：anneinchina@163.com
  • 基金资助:

    上海市自然科学基金资助项目（08ZR1419800）；上海市科委科研项目（08251203200）

Linkage Disequilibrium and Mutation Rate Analysis of Sixteen X-STR Loci

LI LI1, LIU JUN-HONG1,2, ZHU RU-XIN1, LIN YUAN1   

  1. （1. Shanghai Key Laboratory of Forensic Medicine, Institute of Forensic Science, Ministry of Justice, P.R.China, Shanghai 200063, China; 2. Graduate School of East China University of Political Science and Law, Shanghai 200042, China）
  • Online:2014-12-25 Published:2014-12-28

被引次数

3

摘要： 目的 检测X染色体上16个STR基因座的连锁不平衡情况，并对其遗传稳定性进行调查。 方法 从华东汉族群体选取女性无关个体500名、家系885个，提取血样DNA，利用自主研发的IDtyperX-16试剂盒对16个X-STR基因座进行多重PCR扩增和毛细管电泳分型，使用PowerMarker v3.25软件对基因座进行连锁不平衡检验，并分析各个基因座的突变率。 结果 16个X-STR基因座彼此之间不存在连锁不平衡现象；有10个基因座检见突变，其中DXS6809和DXS7132的突变率均高达0.004 8。 结论 对于IDtyperX-16试剂盒中的16个X-STR基因座，在亲权鉴定中应用时可运用乘积原理计算似然率，但若遇到不符合遗传规律的情形（尤其是DXS6809、DXS7132基因座），应考虑存在突变的可能。

关键词: 法医遗传学, X染色体, 短串联重复序列, 连锁不平衡, 突变率

Abstract: Objective To assess the patterns of linkage disequilibrium （LD） of 16 STR loci on X chromosome and investigate the genetic stability. Methods Genomic DNA samples extracted from blood stains from 500 unrelated individuals and 885 lineage members from Eastern Chinese Han population were genotyped through multiplex amplification using IDtyperX-16 kit by our independent research followed by capillary electrophoresis. LD was assessed by PowerMarker v3.25 software and mutation rate of every locus was analyzed. Results LD were not found at the 16 X-STR loci. Allele mutations were observed at 10 loci. Among them, mutation rates of DXS6809 and DXS7132 were both up to 0.004 8. Conclusion When the 16 X-STR loci included in IDtyperX-16 kit were used for parentage testing, product principles can be applied to calculate the likelihood, but mutation should be taken into consideration in the case that the genotypes do not meet the genetic law （especially at DXS6809 and DXS7132）.

Key words: forensic genetics, X chromosome, short tandem repeats, linkage disequilibrium, mutation rate

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