D19S433基因座稀有等位基因4的发现与确认  

Discovery and Confirmation of the Rare Allele 4 in the Locus D19S433

作　　者：张怀才[1] 丁少成[1] 李佑英[1] 

机构地区：[1]杭州市公安局刑事科学技术研究所,杭州310004

出　　处：《刑事技术》2015年第5期426-427,共2页Forensic Science and Technology

摘　　要：在检案过程中发现D19S433基因座有一个超出ladder最小范围的稀有基因,分别采用Identifi ler Plus及AGCU17+1试剂盒对提取产物进行扩增及电泳分析,经测序确认该等位基因为4。查询STRbase数据库,等位基因4尚未见报道,为新发现的稀有等位基因。本文对确认类似OL基因提供了参考方案。When an off-ladder （OL） peak was encountered in STR typing, it should be subjected to repeated detection to determine whether it is really a rare allele with the prior exclusion of a drifting one caused by/in amplification or detection. If true, its typing should be confirmed with the drift correction in advance. In case the deviation is too far to get accurate typing, to sequence it is essential for confirmation. Through this strategy, locus D19S433 was discovered to have a rare allele that is smaller than the minimum one in the ladder for control when a case tested. By CSF1P0 and D19S433 having been sequenced, the obtained OL was confirmed as allele 4. Since the minimum allele ofD19S433 loci included in the STRbase bank is 5.2, the allele 4, not yet reported before, can be regarded as a newly discovered rare allele. Currently, it has been enclosed in STRbase bank. The validation process for confirming the allele 4 here reported may provide a reference for analysis of similar OL gene.

关 键 词：法医遗传学 STR分型 D19S433基因座 off-ladder等位基因 稀有等位基因 

分 类 号：DF795.2[医药卫生—法医学]