D5S818基因座等位基因丢失对亲子鉴定结果的影响  

The effect of allelic loss at D5S818 locus in paternity indentification

作　　者：兰菲菲[1] 陈延冰 何天文[1] 梁杰 LAN Feifei;CHEN Yanbing;HE Tianwen;LIANG Jie(Medical Genetics Center of Guangdong Women and Children Hospital,Guangzhou 511442,China)

机构地区：[1]广东省妇幼保健院医学遗传中心,广州511442

出　　处：《实用医学杂志》2022年第11期1424-1428,共5页The Journal of Practical Medicine

基　　金：广东省医学科学技术研究基金项目(编号:B2021205);广州市科技计划基础与应用基础研究项目(编号:202102080262)。

摘　　要：目的 分析PowerPlex21检测体系中D5S818基因座的等位基因丢失现象,探讨其对亲子鉴定结果的影响。方法 利用Chelex-100法提取样本的DNA。用PowerPlex21体系对3 248例家系研究对象进行20个常染色体STR基因座的复合扩增,分析毛细管电泳后STR基因座的等位基因分型。对发现的D5S818基因座可能存在的等位基因丢失情况,采用Identifiler体系扩增进行验证。结果 经过Identifiler检测体系验证,在5个家系中发现7名个体利用PowerPlex21体系检测存在D5S818基因座等位基因12的丢失情况。结论 等位基因丢失易被误判为发生了基因座的“突变”,对亲子鉴定的累积亲权指数结果有一定的影响。可采用具有相同STR基因座的不同检测体系验证解决,以保证得出正确的亲子鉴定结论。Objective The aim of this study was to investigate the effect of D5S818 locus allele loss on paternity by PowerPlex21 system. Methods Chelex-100 method was used to extract DNA from the samples.Multiplex amplifications of 20 autosomal STR loci were performed in 3248 families using PowerPlex21 system. The genotyping of STR loci was analyzed after capillary electrophoresis. The possible allelic loss at D5S818 locus was verified by amplification by Identifiler system. Results Loss of allele 12 at D5S818 locus were found in seven individuals from five pedigrees using PowerPlex21 system and confirmed by Identifiler system. Conclusion Loss of allele was often misinterpreted as“mutation”of the locus,which has some influence on the result of combined parentage index. For the accurate paternity testing result,different detection systems with the same STR locus could be used.

关 键 词：D5S818基因座 等位基因丢失 检测体系 

分 类 号：D919[医药卫生—法医学]