›› 2011, Vol. 23 ›› Issue (3): 206-208.doi: 10.3969/j.issn.1004-616x.2011.03.011

• 论著 • 上一篇    下一篇

亲子鉴定中IdentifilerTM 系统15个STR基因座突变分析

张丹妍1,张丹媚2,万 凌1,吕 静1,陈晓星1,赵乐天1,李练兵1   

  1. 1. 重庆市人口和计划生育科学技术研究院/重庆市正鼎司法鉴定所/出生缺陷与生殖健康重庆市市级重点实验室，重庆 400020；2. 重庆师范大学，重庆 401331
  • 收稿日期:2011-01-13 修回日期:2011-03-13 出版日期:2011-05-30 发布日期:2011-05-30
  • 通讯作者: 张丹妍

Gene mutation of 15 STR loci analysis of the IdentifilerTM system in parentage testing

ZHANG Dan-yan1， ZHANG Dan-mei2，WAN Ling1，LU Jing1，CHEN Xiao-xing1，ZHAO Le-tian1，LI Lian-bing1   

  1. 1. Science and Technology Research Institute of Population and Family Planning in Chongqing City / Chongqing Zheng-ding Judicial Identification Institute/Key Laboratory of Birth Defects and Reproductive Health of Chongqing, Chongqing 400020; 2. Chongqing Normal University，Chongqing 401331, China
  • Received:2011-01-13 Revised:2011-03-13 Online:2011-05-30 Published:2011-05-30
  • Contact: ZHANG Dan-yan

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摘要： 观察和分析IdentifilerTM系统15个短串联重复序列 (short tandem repeat，STR)基因座在亲子鉴定中的突变现象。 方法： 应用IdentifilerTM荧光标记复合扩增试剂盒检测710例亲子鉴定案，对其中发现突变基因座的案件加用STRtyper荧光标记复合扩增试剂盒进行等位基因检测，或6个mini Y-STR基因座检测。 结果： 在认定亲子关系的615例中，IdentifilerTM荧光标记复合扩增试剂盒中的15个基因座确定7例突变，其中vWA基因座2例，D13S17、FGA、D18S51、D21S11、D19S433基因座各1例；一步突变的6例，二步突变的1例。其突变均来自父亲，且年龄均在35岁以上。 结论： 在亲子鉴定中用IdentifilerTM荧光标记复合扩增试剂盒检测到1～2个基因座不符合遗传规律时，有必要增加突变率低、稳定性好的STR基因座进行复核并排除近亲关系。

关键词: 遗传学, 亲子鉴定, 短串联重复序列, 基因突变

Abstract: Observation and analysis of gene mutation of 15 short tandem repeat (STR) loci of the IdentifilerTM system in paternity testing. METHODS：Make use of the IdentifilerTM fluorescent multiplex PCR kit for indentification of 710 paternity cases. If the gene mutant was found we would be perform STRtyper fluorescent multiplex PCR kit or six mini Y-STR loci for detection of alleles. RESULTS： In the 615 cases identified in the parent-child relationship， seven cases of mutation were found in IdentifilerTM fluorescent multiplex PCR kit detection， of which 2 cases at vWA loci，and one each at D13S17， FGA， D18S51， D21S11 and D19S433 loci； step mutation in the six cases， two-step mutation in 1 case. Mutations were found in the father， aged over 35 years. CONCLUSION： 1-2 STR loci found are not in line with the expected by fluorescent multiplex PCR IdentifilerTM kit， it is necessary to increase STR loci with low mutation rate and good stability to confirm and to exclude consanguinity.

Key words: genetics, parentage testing, STR loci, gene mutation

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