法医学杂志

法医学杂志 ›› 2015, Vol. 31 ›› Issue (2): 106-111.DOI: 10.3969/j.issn.1004-5619.2015.02.008

• 论著 • 上一篇    下一篇

Y-STR遗传标记在大家系中的突变

彭  珊1，刘  超2，3，王  瑛1，李  越2，3，张楚楚1，洪  丽1，欧雪玲1，孙宏钰1   

  1. （1. 中山大学中山医学院法医学系，广东 广州 510080； 2. 广东省法医遗传学重点实验室，广东 广州 510030； 3. 广州市刑事科学技术研究所，广东 广州 510030）
  • 发布日期:2015-04-25 出版日期:2015-04-28
  • 通讯作者: 孙宏钰，女，博士，教授，主要从事法医物证学研究；E-mail：sunhongyu2002@163.com
  • 作者简介:彭珊（1989—），女，湖南娄底人，硕士研究生，主要从事法医物证学研究；E-mail：pengshan2007@163.com
  • 基金资助:

    国家自然科学基金面上项目（81273347）；广东省科技计划项目（2013B021500010）

Mutations in a Large Pedigree with Y-STR Genetic Markers

PENG SHAN1, LIU CHAO2,3, WANG YING1, LI YUE2,3, ZHANG CHU-CHU1, HONG LI1, OU XUE-LING1, SUN HONG-YU1   

  1. （1. Department of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, China; 2. Guangdong Provincial Key Laboratory of Forensic Genetics, Guangzhou 510030, China; 3. Guangzhou Institute of Criminal Science and Technology, Guangzhou 510030, China）
  • Online:2015-04-25 Published:2015-04-28

摘要： 目的 调查大家系中Y-STR基因座在减数分裂等位基因传递过程中的突变现象。 方法 收集一个林姓父系家系的163个男性个体口腔拭子样本，采用AGCU Y24荧光检测试剂盒（AGCU Y24体系）进行22个Y-STR遗传标记分型。AGCU Y24体系包含YfilerTM复合扩增试剂盒（Yfiler体系）的全部16个Y-STR遗传标记。比较该家系内男性个体两两之间的Y-STR分型差异。 结果 该林姓家系163个男性个体在Yfiler和AGCU Y24体系分别获得20和30种单倍型，男性个体两两之间单倍型差异率分别为0.910 5和0.922 7，平均遗传标记差异数目分别为6.582 1个和9.824 8个。男性个体两两之间的单倍型差异率随着减数分裂次数增多而增加。 结论 Y-STR突变会使同一父系男性个体的Y-STR基因分型产生差异，随着减数分裂次数增多差异增加。

关键词: 法医遗传学, 突变, 遗传标记, Y-STR, 家系

Abstract: Objective To explore the mutation of Y-STR loci in meiotic allelic transmission in a large pedigree. Methods The oral swabs of 163 male individuals were collected from a Lin pedigree. Twenty-two Y-STR genetic markers were typed with AGCU Y24 fluorescent detection kit （AGCU Y24 system）, which also contained 16 Y-STR markers included in YfilerTM multiple amplification kit （Yfiler system）. The genotyping results of Y-STR loci were compared between each two males in the pedigree. Results There were 20 and 30 kinds of haplotypes obtained with Yfiler and AGCU Y24 systems in 163 male individuals from the Lin pedigree, respectively. The rates referred to haplotype differences （RRHD） of these two typing systems between male pairs were 0.910 5 and 0.922 7, respectively. The average number of marker differences were 6.582 1 and 9.824 8, respectively. The RRHD increased along with the incidents of meiosis. Conclusion Y-STR mutation leads to different Y-STR haplotypes among the male members in a paternal pedigree and the rate of difference increases along with the incidents of meiosis.

Key words: forensic genetics, mutation, genetic markers, Y-STR, pedigree

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