性别鉴定中amelogenin基因座变异的研究进展

Amelogenin基因座变异,分为amelogenin引物结合区突变和包含amelogenin基因座的Y染色体微缺失两种类型,以后者最为常见。Amelogenin引物结合区突变的发生机制是核苷酸点突变,包含amelogenin的Y染色体微缺失的发生机制可能是非等位同源重组或者非同源末端连接。在全世界人群中,位于印度次大陆地区的印度人群、斯里兰卡人群和尼泊尔人群amelogenin变异率非常高。Amelogenin变异对生育能力和表型影响非常小,但在性别鉴定中会导致错误的性别鉴定结果。采用包含常染色体STR基因座、amelogenin基因座和多个Y-STR基因座的复合扩增试剂盒进行检测可有效避免因amelogenin变异导致的性别误判。

Research Progress on Gene Alterations of Amelogenin Locus in Gender Identification

There are two kinds ofamelogeningene mutation, including mutation in primer-binding re-gion ofamelogeningene and micro deletion of Y chromosome encompassingamelogeningene, and the latter is more common. The mechanisms of mutation in primer-binding region ofamelogeningene is nu-cleotide point mutation and the mechanism of micro deletion of Y chromosome encompassingamelo-geningene maybe non-allelic homologous recombination or non-homologous end-joining. Among the population worldwide, there is a notably higher frequency ofamelogeningene mutations in Indian popu-lation, Sri Lanka population and Nepalese population which reside within the Indian subcontinent. Thoughamelogeningene mutations have little impact on fertility and phenotype, they might cause incor-rect result in gender identification. Using composite-amplification kit which including autosomal STR lo-cus,amelogeningene locus and multiple Y-STR locus, could avoid wrong gender identification caused byamelogeningene mutation.