法医学杂志

法医学杂志 ›› 2005, Vol. 21 ›› Issue (2): 86-89.

• 论文 • 上一篇    下一篇

常用STR基因座突变的观察与分析

李秋阳,丰伟军,杨庆恩,朱传红,黄代新,余纯应   

  1. 华中科技大学同济医学院法医学系,华中科技大学同济医学院法医学系,华中科技大学同济医学院法医学系,武汉市公安局,华中科技大学同济医学院法医学系,华中科技大学同济医学院法医学系 湖北武汉430030 ,湖北武汉430030 ,湖北武汉430030 ,湖北武汉430030 ,湖北武汉430030 ,湖北武汉430030
  • 发布日期:2005-04-25 出版日期:2005-04-28

Observation and Analysis on Mutation of Routine STR Locus

LI QIU-YANG, FENG WEI-JUN, YANG QIN-GEN, ET AL. (DEPARTMENT OF FORENSIC MEDICINE, TONGJI MEDICAL COLLEGE OF HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY,WUHAN 430030,CHINA)   

  • Online:2005-04-25 Published:2005-04-28

摘要： 目的观察与分析常用STR基因座突变的特点。方法从1211例确定亲子关系的案例中收集到27个突变基因。用银染法和荧光标记试剂盒复核,并作序列测定证实。结果27个突变基因出现在15个基因座,突变方式符合步移突变模型。男女性别比例8∶1。突变率与父亲年龄正相关。结论突变率与基因座各等位基因均一重复单位个数的几何平均数相关,数值高的突变率较高,亲子鉴定中应谨慎使用。

关键词: 短串联重复序列(STR), 突变, 测序, 复制滑动

Abstract: Objective To observe and analyze the characteristic of mutation at STR locus. Methods 27 mutant genes observed in 1 211 paternity testing cases were checked by PAGE-silver stained and PowerPlex 16 System Kit and validated by sequencing. Results Mutant genes locate on 15 loci. The pattern of mutation was accord with stepwise mutation model. The mutation ratio of male-to-female was 8∶1 and correlated to the age of father. Conclusion Mutation rate is correlated to the geometric mean of the number of homogeneous repeats of locus. The higher the mean, the higher the mutation rate. These loci are not so appropriate for use in paternity testing.

Key words: short tandem repeat, mutation, sequencing, replication slippage