染色体Yp11.2范围内多个Y-STR等位基因缺失探究

Several Y-STR loci failed to be amplified due to a large deletion on Yp11.2

目的探讨多个位于染色体Yp11.2内的Y-STR基因座等位基因缺失的原因。方法使用STRtyper-27Y试剂盒对3份Amel-Y基因缺失的样本进行检测,并用Yfiler plus和Powerplex Y23两种试剂盒进行验证。结果 3份样本除Amel-Y缺失外,DYS458、DYS570、DYS576、DYS481、DYS627、DYS449基因座Y等位基因也均显示缺失,其在染色体上的位置在6.74-7.87Mb之间,紧密相连位于Yp11.2。结论 3份样品Y染色体片段缺失与扩增引物设计无关,可能系Y染色体上6.74-8.65Mb甚至更大范围出现连锁片段缺失,检测时需要注意试剂盒基因座位置的涵盖范围应尽量宽广。

Objective To discuss the probable reason of several Y-STR allele in chromosome Yp11. 2drop out during amplification. Methods Three samples with AMEL-Y deletion were analyzed by STR typer-27 Y kit,and then validated by AB Yfiler plus kit and Powerplex Y23 kit separately. Results Seven Y-STR loci deletion of 6. 74 to 8. 65 Mb located in Yp11. 2 region were found,including DYS458,DYS570,DYS576,DYS481,DYS627,DYS449 and AMEL-Y. Conclusion Primer design of the kit failed to explain the deletion of three samples on Y chromosome. The allele deletion may caused by a large deletion between position6. 74 ~ 8. 65 Mb or even a larger region near the centromere of the short arm of Y-chromosome. As a result,more attention should be paid to the typing result using the above DNA amplification kit in case research.