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

作　　者：刘双爱 张晓燕[1,2,3] 娄季武 赵颖[1,2,3] 曹泰华 严提珍[1,2,3] LIU Shuangai;ZHANG Xiaoyan;LOU Jiwu;ZHAO Ying;CAO Taihua;YAN Tizhen(Dongguan Maternal and Child Health Care Hospital Forensic Judicial Appraisal Institute,Dongguan,Guangdong 523000,China;Dongguan Key Laboratory of Reproduction and Birth Defects Prevention and Control,Dongguan,Guangdong 523000,China;Dongguan Key Laboratory of Genetic disorder Prenatal testing Precision medicine,Dongguan,Guangdong 523000,China;Laboratory Department of Dongguan Maternal and Child Health Care Hospital,Dongguan,Guangdong 523000,China)

机构地区：[1]东莞市妇幼保健院法医物证司法鉴定所,广东东莞523000 [2]东莞市生殖与出生缺陷防控重点实验室,广东东莞523000 [3]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 [4]东莞市妇幼保健院检验科,广东东莞523000

出　　处：《中国优生与遗传杂志》2024年第3期545-549,共5页Chinese Journal of Birth Health & Heredity

基　　金：东莞市社会发展科技计划(20231800940312)。

摘　　要：目的鉴定1例新的PentaD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-100法提取DNA,进行PentaD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PentaD和D10S1248基因座为双等位基因,PentaD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]_(20)AAAA,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。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 Expressmarker 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 D10S1248 loci showing a third allele.The Huaxia^(TM)Platinum PCR amplification kit found that the Penta D and D10S1248 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]_(20)AAAA,which is a novel micro variant allele.According to the STR naming method recommended by the Specification of forensic STR nomenclature,the allele is named 20.4.Conclusion The OL alleles or micro variant alleles that appear 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 

分 类 号：D919.4[医药卫生—法医学]