实用医学杂志 ›› 2022, Vol. 38 ›› Issue (11): 1424-1428.doi: 10.3969/j.issn.1006⁃5725.2022.11.023

• 新技术新方法 • 上一篇    下一篇

D5S818基因座等位基因丢失对亲子鉴定结果的影响

兰菲菲 陈延冰 何天文 梁杰   

  1. 广东省妇幼保健院医学遗传中心(广州 511442)

  • 出版日期:2022-06-10 发布日期:2022-06-10
  • 基金资助:
    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)

The effect of allelic loss at D5S818 locus in paternity indentification

LAN Feifei,CHEN Yanbing,HE Tian⁃ wen,LIANG Jie.   

  1.  Medical Genetics Center of Guangdong Women and Children Hospital,Guangzhou 511442,China
  • Online:2022-06-10 Published:2022-06-10

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。

关键词: D5S818基因座, 等位基因丢失, 检测体系

Abstract:

Objective The aim of this study was to investigate the effect of D5S818 locus allele losson 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. Thegenotyping of STR loci was analyzed after capillary electrophoresis. The possible allelic loss at D5S818 locus wasverified by amplification by Identifiler system. Results Loss of allele 12 at D5S818 locus were found in sevenindividuals from five pedigrees using PowerPlex21 system and confirmed by Identifiler system. Conclusion Lossof allele was often misinterpreted as“mutation”of the locus,which has some influence on the result of combinedparentage index. For the accurate paternity testing result,different detection systems with the same STR locuscould be used.