一例大片段重复序列Penta E基因座off-ladder等位基因的测序鉴定  

Sequencing of a large off-ladder allele at Penta E locus

作　　者：张应爱[1] 王顺兰[1] 文小红 张淑芳[1] Zhang Ying'ai;Wang Shunlan;Wen Xiaohong;Zhang Shufang(Central Laboratory,Haikou People's Hospital,Haikou,Hainan 570208,China)

机构地区：[1]海口市人民医院中心实验室,570208

出　　处：《中华医学遗传学杂志》2019年第2期168-170,共3页Chinese Journal of Medical Genetics

基　　金：海南省自然科学基金(817379);海南省重大科技计划项目(ZDKJ2017007).

摘　　要：目的鉴定一例Penta E基因座的罕见大片段短串联重复序列(short tandem repeat,STR)分型标准外(off ladder,OL)等位基因的序列构成。方法用PowerPlex■21检测系统对一对父女进行STR分型。用Chelex-100法提取其DNA,进行Penta E基因座的PCR扩增,纯化回收扩增片段后进行克隆测序。结果Penta E基因座检出OL等位基因,根据其片段大小,推测为26等位基因。Penta E基因座中的OL等位基因含有26个[AAAGA]重复,是一个新的等位基因,涉及重复单元完整的重复。结论对于STR分型中出现的分型标准外的等位基因或微变异等位基因宜进行测序分析,对于OL等位基因的正确分型将丰富STRBase数据库,对提高基因座个体识别和亲权鉴定能力具有十分重要的意义。Objective To identify a rare large off ladder (OL)allele at the Penta E locus.Methods Chelex-100 was used to extract DNAs from the blood samples.The PCR fragments were purified, extracted,and subjected to TA cloning and sequencing.Results An OL allele was identified by the PowerPlex^■21 at the Penta E locus,which was postulated as allele 26 based on assigned size.The OL allele was verified as a novel fragment containing 26 full AAAGA repeats.Conclusion OL alleles and microvariants should be verified by direct sequencing.Typing of OL alleles has significance for both daily work and forensic genetics.

关 键 词：法医遗传学 微变异等位基因 短串联重复序列 DNA测序 Penta E基因座 

分 类 号：D919[医药卫生—法医学]