法医学杂志

法医学杂志 ›› 2013, Vol. 29 ›› Issue (3): 196-198.DOI: 10.3969/j.issn.1004-5619.2013.03.010

• 案例分析 • 上一篇    下一篇

227例疑似常染色体STR基因座突变的回顾分析

穆豪放1，徐  达2，刘  滨3，黄艳清1，王丽娜1，张  博1，陈  峰4   

  1. （1. 北京华大方瑞司法物证鉴定中心，北京 101300； 2. 韶关市公安局刑警支队，广东 韶关 512000； 3. 北京市朝阳区公安司法鉴定中心，北京 100024； 4. 南京医科大学法医系，江苏 南京 210029）
  • 发布日期:2013-06-25 出版日期:2013-06-28
  • 通讯作者: 陈峰，男，博士，教授，主要从事法医物证学教学及科研工作；E-mail：xjtuchenfeng@gmail.com
  • 作者简介:穆豪放（1981—），男，河北辛集人，主检法医师，主要从事法医物证学研究；E-mail：muhf@genomics.org.cn

Mutation of Suspected Autosomal STR Loci: 227 Cases Retrospective Analysis

MU HAO-FANG1, XU DA2, LIU BIN3, HUANG YAN-QING1, WANG LI-NA1, ZHANG BO1, CHEN FENG4   

  1. （1. Center of Forensic Sciences, Beijing Genomics Institute, Beijing 101300, China; 2. Criminal Police Branch, Shaoguan Public Security Bureau, Shaoguan 512000, China; 3. Forensic Science Identification Center, Chaoyang District Public Security Bureau, Beijing 100024, China; 4. Department of Forensic Medicine, Nanjing Medical University, Nanjing 210029, China）
  • Online:2013-06-25 Published:2013-06-28

被引次数

10

摘要： 目的 对疑似常染色体STR基因座突变案例进行研究分析。 方法 从本鉴定中心亲子鉴定案例中整理出疑似突变案例227例进行分析，筛选等位基因突变案例，统计各STR基因座的突变数，计算疑似突变案例的CPI值，分析突变的规律及其特点。 结果 227例疑似突变案例中有3个案例为排除亲权关系，其余案例共在18个STR基因座位上出现228次突变，每个突变案例的突变基因座数目为1～2个，最多突变步数为四步。3例排除亲权关系案例计算扩增20A试剂盒后的CPI值都<104，标准三联体联合使用20A和10G试剂盒时CPI值全部超过了104，二联体单亲鉴定联合使用20A和10G试剂盒时有99.45%的CPI值超过104。 结论 STR基因座等位基因突变现象较为常见，当出现疑似突变案例时应增加STR基因座的检测数量，或补充样本为完整三联体，以最大程度地降低误判风险。

关键词: 法医遗传学, 突变, 染色体畸变, 短串联重复序列, 亲子鉴定

Abstract: Objective To study the suspected autosomal STR loci mutation cases. Methods A total of 227 suspected autosomal STR loci mutation cases were selected from Center of Forensic Sciences, Beijing Genomics Institute. The allelic mutation cases were screened and the number of mutation of each STR loci was statistically analyzed. The CPI value was calculated in order to study the characteristics and rules of the mutations. Results In the 227 suspected mutation cases, 3 cases were excluded paternity, and 228 mutations were observed at 18 STR loci in the rest of the cases. The average number of STR mutation loci was 1-2. The maximum of mutation step was 4. After using 20A amplification kit, the CPI values in 3 non-parentage cases were all less than 104. After using 20A and 10G amplification kits, the CPI values were all larger than 104 in all standard parents-child triplet cases and in 99.45% of diad cases. Conclusion The allelic mutation of STR loci is relatively common in forensic cases. By increasing the number of the required STR loci and supplementing the samples of  the triplet, the identification errors could be decreased to a great extent when suspected autosomal STR loci mutation occurs.

Key words: forensic genetics, mutation, chromosome aberrations, short tandem repeat, paternity testing

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