Y染色体Amelogenin基因缺失分析研究

Analysis of Amelogenin gene deletion on Y chromosome

目的分析云南省男性群体Y染色体Amelogenin基因缺失情况。方法采集6000名云南省无关男性个体血样,使用PowerPlex21、STRtyper-21G和PowerPlex Y23试剂盒进行STR复合扩增,GeneMapper ID-X 1.5软件分析基因分型数据。结果统计分析发现,云南男性AMELY缺失频率约为0.033%。进一步探究缺失原因,AMELY缺失还伴随其他Y-STR基因座缺失,缺失导致的扩增失败是由于Yp11.2上连锁片段缺失。结论AMELY基因缺失具有一定的发生频率,将干扰性别鉴定,在检验时需要对缺失情况进行分析探究。

Objective To analyze the deletion of Amelogenin gene on Y chromosome in male population in Yunnan Province.Methods Blood samples of 6000 unrelated male individuals in Yunnan Province were collected,and PowerPlex;21,STRtyper-21G and PowerPlex Y23 kits were used for STR multiplex amplification.GeneMapper ID-X 1.5 software was used to analyze the genotyping data.Results The frequency of AMELY deletion in Yunnan males was about 0.033%.To explore the reasons of deletion,AMELY deletion was accompanied by other Y-STR loci deletion.The amplification failure Caused by deletion was due to the deletion of the linkage fragment on Yp11.2.Conclusion AMELY gene deletion has a certain frequency,which will interfere with gender identification.It is necessary to analyze and explore the deletion in the test.