D8S1179基因座等位基因丢失现象的研究

目的 探讨在进行STR分型时发生的等位基因“丢失”情况的原因。方法 分别采用Profiler Plus试剂盒和GenBank数据库设计的引物,对D8S1179基因座进行基因分型,并对丢失的等位基因进行测序分析。结果D8S1179基因座丢失的等位基因在第147位碱基出现G-A转换。在中国人群中,该位置出现碱基转换的频率是0.50×10-2(在2013个无关个体中观察到10例无关变异事件)。结论 第147位碱基转换正好位于Prfiler Plus试剂盒中D8S1179基因座的引物结合区域,导致扩增时等位基因丢失。

Allelic dropout at D8Sl179 locus by using AmpFISTR Profiler Plus system

Objective To evaluate the cause which leads to the allelic dropouts at D8S1179 locus while performing paternity testing with the AmpFlSTR Profiler Plus kit. Methods A singleplex amplification system for D8S1179 locus (GenBank Accession No. G08710) was used to verify the typing results by using the AmpFlSTR?Profiler plus kit. Dropout alleles were then sequenced. Results G to A transition was identified at the position of the 147th base of the GenBank sequence. The frequency of the G to A transition among the Chinese population was 0.50 X 10"2 (10 out of 2013 unrelated individuals). Conclusion The G to A transition may be located at the binding site of one of the primers of the AmpFlSTR?Profiler Plus kit. It is suggested that the G to A transition might be the cause of the allelic dropout at the D8S1179 locus.