D18S51基因座等位基因侧翼序列四碱基缺失3例

Three Cases of Tetra-base Deletion in the Flanking Sequence of the D18S51 Locus Allele

3例无关人员口腔拭子经DNA提取后采用AGCU EX20、AGCU EX30、VeriFiler Plus和PowerPlex?21四种试剂盒检测,同一样本在D18S51基因座获得了相差1个重复单元的两种等位基因分型。本文利用Sanger测序法分别对上述3例人员样本的D18S51基因座及上下游区域进行检测。经序列比对,发现3个样本的基因组中D18S51基因座下游chr18:63281892-63281895位置均存在[GTTT]的四碱基缺失。建议针对D18S51基因座设计引物时,应选择在上述碱基缺失位置上游区域进行。

Three unrelated human samples were tested with AGCU EX20,AGCU EX30,VeriFiler Plus,and PowerPlex®21 kits,and two alleles with one duplicate unit difference were obtained in D18S51.This paper used the Sanger sequencing method to detect D18S51 loci and upstream and downstream regions of the above three human samples.By sequence comparison,it was found that there were four base deletions of[GTTT]in chr18:63281892-63281895 downstream of D18S51 locus in the genomes of the three individuals.It is suggested that primers designed for D18S51 loci should be selected in the upstream region of the above base deletion location.