1例新的Penta D基因座off-ladder等位基因测序分析
Sequencing analysis of a novel off-ladder allele at the Penta D locus
刘双爱 1张晓燕 1娄季武 1赵颖 1曹泰华 2严提珍1
作者信息
- 1. 东莞市妇幼保健院法医物证司法鉴定所,广东东莞 523000;东莞市生殖与出生缺陷防控重点实验室,广东东莞 523000;东莞市遗传性疾病产前诊断精准医学重点实验室,广东东莞 523000
- 2. 东莞市妇幼保健院检验科,广东东莞 523000
- 折叠
摘要
目的 鉴定1例新的Penta D基因座短串联重复序列(STR)分型标准外(OL)等位基因的序列构成.方法 用AGCU Expressmarker 22荧光检测试剂盒和华夏TM白金PCR扩增试剂盒对一对父女进行STR分型.用Chelex-10 0法提取DNA,进行Penta D基因座的PCR扩增,纯化回收PCR扩增片段后进行测序.结果 AGCU Expressmarker 22荧光检测试剂盒检出Penta D基因座为单峰,相邻的D10S1248基因座检出三等位基因;华夏TM白金PCR扩增试剂盒检出Penta D和D10S1248基因座为双等位基因,Penta D基因座检出OL等位基因;测序结果显示该OL等位基因核心序列为[AAAGA]20AAAA,是一个新的微变异等位基因.根据法医学STR基因座命名规范,将该等位基因命名为20.4.结论 对于STR分型中出现的微变异等位基因或OL等位基因可进行测序鉴定,对于OL等位基因的精确分型将丰富STRBase数据库,对提高基因座个体识别和亲权鉴定能力具有重要意义.
Abstract
Objective To identify the sequence composition of a new off-ladder(OL)allele of the short tandem repeat(STR)at the Penta D locus.Methods STR genotyping was performed on a father daughter pair using the AGCU Express-marker 22 PCR amplification kit and the HuaxiaTM Platinum PCR amplification kit.Extract DNA using Chelex-100 method,perform PCR amplification of the Penta D locus,purify and recover PCR amplified fragments,and then perform sequencing.Results The AGCU Expressmarker 22 detection system found a single peak at the Penta D locus,with adjacent D10S 1248 loci showing a third allele.The HuaxiaTM Platinum PCR amplification kit found that the Penta D and D1 0S 1248 loci were dual alleles,while the Penta D locus detected the OL allele.The sequencing results show that the core sequence of the OL allele is[AAAGA]20AAAA,which is a novel micro variant allele.According to the STR naming method recommended by the Speci-fication of forensic STR nomenclature,the allele is named 20.4.Conclusion The OL alleles or micro variant alleles that ap-pear in STR typing can be sequenced and identified.Accurate typing of OL alleles will enrich the STRBase database,and is of great significance for improving paternity testing ability and individual identification of loci.
关键词
短串联重复序列/分型标准外等位基因/Penta/D/DNA测序Key words
short tandem repeat/off-ladder allele/Penta D/DNA sequencing引用本文复制引用
基金项目
东莞市社会发展科技计划(20231800940312)
出版年
2024
NETL
NSTL
万方数据