鄂伦春族Y染色体短串联重复序列多态性研究

目的 调查鄂伦春族Y染色体上10个短串联重复序列基因座及单倍型的遗传多态性。方法 应用PCR和变性聚丙烯酰胺凝胶电泳结合银染显色分型技术，检测102名无关系鄂伦春族男性血样。结果 在DYS392、DYS438、DYS439、DYS456、DYS459、DYS460、DYS461、DYS462、DYS389Ⅰ、DYS389Ⅱ等10个基因座中共检出44个等位基因，等位基因频率分布在0．418（DYS461）至0．727（DYS389Ⅰ）之间，除了DYS461（0．418）和DYS462（0．479）以外，其余等位基因频率均大于0．5。由10个基因座组成的Y染色体单倍型系统单倍型有101种，单倍型频率0．99。结论 上述10个Y-短串联重复基因座在鄂伦春族群体中具有较好的多态性，单倍型具有很高的遗传多态性。

Genetic polymorphism of Y-chromosome short tandem repeat in Elunchun ethnic group of China

OBJECTIVE: To reveal the allelic frequencies and haplotype frequencies of ten Y-chromosome short tandem repeats(STR) loci (DYS392, DYS438, DYS439, DYS456, DYS459, DYS460,DYS461, DYS462, DYS389I and DYS389II systems) in an Elunchun population sample. METHODS: PCR and polyacrylamidegel electrophoresis(PAGE) followed by silver staining were performed to analyze the blood samples from 102 unrelated Elunchun male individuals. RESULTS: The allele diversity values for each locus ranged from 0.418(DYS461) to 0.727(DYS389 I). Gene diversities were higher than 0.5 except DYS462(0.479) and DYS461 (GATAA7.2)(0.418). Furthermore, 101 haplotypes from 10 Y-chromosome STRs loci were found in the sample and a high haplotype diversity 0.99 was determined. CONCLUSION: The above findings suggest that the ten Y-chromosome STR loci are valuable Y-specific markers for establishing Y-STR database, understanding human origin, paternity testing and personal identification.