汉族人群Y染色体多拷贝基因座DYS464遗传多态性

Genetic Polymorphism of Multi-copy Y Chromosomal Short Tandem Repeat Marker DYS464 in Han Population

目的研究Y染色体多拷贝基因座DYS464遗传多态性在汉族群体中的分布规律。方法选择106例汉族无亲缘关系男性个体作为研究对象,荧光标记引物PCR扩增DYS464基因座片段,ABI377自动测序仪上变性聚丙烯酰胺凝胶电泳分析PCR产物,并对不同重复序列分别测序。结果DYS464基因座在106例汉族男性无关个体中发现有8种片段,变异11～18次。根据其中任意4种片段的组合,即片段大小和峰高的比率来命名等位基因,E-型命名方法,观察到61种等位基因,其中36种等位基因只出现1次。基因多样性和个体识别力分别为0.9853和0.9760,比目前报道的单个Y-STR基因座的多态性都高。结论多拷贝基因座DYS464具有高度多态性,非常适于法医学实践和人类进化的研究。

[Objective] To investigate the genetic polymorphism and distribution of Y chromosomal marker DYS464 locus in Chinese Han population. [Methods] A total of 106 unrelated Han men were selected. The fragments of DYS464 locus were amplified with florescent primers. The PCR products were typed and different repeat fragments were sequenced respectively using denaturing polyacrylarnide gels electrophoresis on ABI377 Primer sequencer. [Results] Among 106 unrelated Han males, 8 fragments, with variable repeats from 11-18 units, were found. According to the combination of different fragments, i.e. different length and peak height ratios of amplified fragments, E-typing method, 61 alleles were identified. Out of them 36 alleles were observed once only. The gene diversity （GD） and the discriminating power （DP） were 0.9853 and 0.9760, respectively,both of which were higher than that of the currently reported single Y-STR loci. [Conclusion ] Multi-copy locus DYS464 is a highly polymorphic marker and useful for applying to forensic science and human evolution study.