3个CODIS核心基因座突变的亲子鉴定案1例  

A paternity testing case with mutations at three CODIS core loci

作　　者：陈维红[1] 汪娜娜 李海霞[1] 臧钰 张天依 孙宏钰[1] CHEN Wei-hong;WANG Na-na;Li Hai-xia;ZANG Yu;ZHANG Tian-yi;SUN Hong-yu(Faculty of Forensic Medicine,Zhongshan School of Medicine,Sun Yat-sen University,Guangzhou,Guangdong 510080,China)

机构地区：[1]中山大学中山医学院法医学系,广东广州510080

出　　处：《热带医学杂志》2020年第10期1277-1279,共3页Journal of Tropical Medicine

基　　金：国家自然科学基金面上项目(81671873)。

摘　　要：目的探讨多个联合DNA检索系统(CODIS)核心基因座发生突变的亲子鉴定案件的分析方法。方法采用常规短串联重复系列(STR)复合扩增体系检测23个常染色体STR基因座出现3个CODIS核心基因座违反孟德尔遗传规律,对被鉴定个体增加检测至48个常染色体STR基因座和17个Y-STR基因座,计算相关的累积亲权指数(CPI)值进行分析。结果当检测23个常染色体STR基因座时,疑父-子的CPI值未达到行业技术规范要求的肯定亲权的阈值,增加至41和48个基因座时,计算CPI(疑母/子)为3.0790×10^18、CPI(疑父/子)为2.0485×10^12、CPI(疑父-疑母/子)为1.0556×10^18,均达认定标准。父母子三联体鉴定比父子二联体鉴定的证据力度更大。Y-STR基因座分型结果符合父子之间的遗传表现。结论当出现3个STR基因座同时突变时,需增加检测遗传标记综合分析,避免错误的结论。Objective To investigate the method for paternity testing with mutations at three short tandem repeat(STR)core loci in combined DNA index system(CODIS).Methods Three CODIS core loci were shown violating Mendel’s genetic law in a paternity testing case using routine 23 autosomal STR multiplex genotyping system.Forty-eight autosomal STR loci and 17 Y-STR loci were detected in total and the cumulative parental index(CPI)were calculated.Results The CPI value of suspected parent-child was below the standard threshold of affirmative parentage required by the technical specifications,while the CPI values met the threshold with 41 or 48 STR loci,such as CPI(alleged mother-child)=3.0790×10^18,CPI(alleged father-child)=2.0485×10^12 and CPI(alleged father-mother-child)=1.0556×10^18.The alleged father-mother-child trio test was more powerful than alleged father-child duo test case.Conclusion When three STR mutations occur simultaneously,more genetic markers should be detected and analyze comprehensively to avoid the wrong conclusion.

关 键 词：亲子鉴定 短串联重复序列 突变 

分 类 号：R987[医药卫生—药品]