【摘要】 【目的】从Y染色体DNA序列中筛选新的Y-STR基因座,调查其在汉族群体中的遗传多态性。【方法】在人类Y染色体DNA序列中查找Y-STR基因座,确定它们在Y染色体上的定位并测序,与已报道的Y-STR基因座比较。检测汉族(广州地区)无关男性群体中这些Y-STR基因座单体型。【结果】鉴别出5个Y-STR基因座(DYS709,DYS720,DYS721,DYS722和DYS723),其中3个STR基因座是新发现的,另2个基因座与在线报告的重叠。所有5个STR基因座都是男性特有的。它们的扩增产物长度介于185bp～278bp。在108例汉族无关男性个体中发现DYS709有6个,DYS720有11个,DYS721有4个,DYS722有6个,DYS723有6个等位基因。在本组群体中发现95种单体型,其中84种只出现1次。单体型多样性达0.9972±0.0012。【结论】这组5个Y-STR基因座可望应用于汉族群体的有关研究中。更多还原

【Abstract】 【Objective】 To screen and identify the new Y-STR loci from the Y chromosome and examine the polymorphism of these Y-STR loci.【Method】 To seek and locate the position of 5 Y-STR loci,including DYS709,DYS720,DYS721,DYS722,and DYS723,and perform sequencing of these 5 Y-STR loci.Then to investigate the polymorphism in unrelated Chinese Han males.【Results】 Five Y-STR loci were identified from Y chromosome sequence.By scrutinizing the physical position on Y chromosome of previously reported Y-STRs,we found that three loci were novel and two loci overlapped with two loci published only online.All loci could be male-specifically amplified with a product size ranging from 185 bp to 278 bp.After 108 males of the Chinese Han Population (Guangzhou) were examined,we found 5 DYS709,11 DYS720 alleles,4 DYS721 alleles,6 DYS722 alleles,and 6 DYS723 alleles.A total of 95 haplotypes were identified,84 of which were unique,and with a haplotype diversity of 0.997 2 ± 0.001 2 (HD ± SE).【Conclusion】 This set of Y-STRs can be used as Y chromosome genetic makers in related fields.更多还原