CAJ | 학술논문

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 Identifiler 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。
재검안과정중발현 D19S433기인좌유일개초출 ladder 최소범위적희유기인，분별채용 Identifiler Plus 급AGCU17+1시제합대제취산물진행확증급전영분석，경측서학인해등위기인위4。사순 STRbase 수거고，등위기인4상미견보도，위신발현적희유등위기인。본문대학인유사 OL 기인제공료삼고방안。
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 of D19S433 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.