中国六个群体Y染色体单核苷酸多态位点的遗传多态性研究  

Population genetic analysis of Y-chromosomal single nucleotide polymorphism in six Chinese populations

作　　者：张咏莉[1] 于敏[1] 陈峰[1] 薛雅丽[1] 马琳琳[1] 黄晓义[1] 张贵寅[1] 李璞[1] 傅松滨[1] 

机构地区：[1]哈尔滨医科大学医学遗传学研究室

出　　处：《中华医学遗传学杂志》2004年第2期138-143,共6页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金重大资助项目 (39392 90 0 )~~

摘　　要：目的　分析中国 6个代表性群体中 Y染色体非重组区 15个单核苷酸多态位点 (single nu-cleotide polymorphism,SNP)的遗传多态性。方法　采用特异性等位基因聚合酶链反应 (allelic specificPCR,ASPCR)扩增技术和琼脂糖凝胶电泳、聚丙烯酰胺凝胶电泳检测方法 ,对来自中国南方、东北、西北 3个地区的福建汉族、四川汉族、蒙古族、赫哲族、锡伯族、回族 6个代表性群体 343份男性健康无血缘关系血样本的遗传多态性进行分析。结果　共定义出 30种 Y染色体单体群 ,其中 H15、H16、H18是所有 6个群体中共享的单体群。虽然赫哲族、蒙古族、锡伯族之间以及福建汉族、四川汉族、回族之间遗传异质性水平相似 ,但单体群的配对差异是显著的。遗传分子变异分析和单体群分布的主成分分析结果显示 ,赫哲族、蒙古族、锡伯族以及福建汉族、四川汉族、回族两大组群体之间等位基因多样性显著不同。结论　东北 /南方群体之间的遗传差异明显强于东北 /西北和南方 /西北 ,中国 6个群体呈现东北 /西北 /南方的地域性遗传关系。研究结果进一步证实了现代中国人群体遗传结构的复杂性 ,所积累的遗传数据对于构建现代人类基因库以及精确追溯中国人群的历史迁移足迹都具有重要意义。Objective To analyze the genetic polymorphism of 15 single nucleotide polymorphism (SNP) loci on the nonrecombining portion of the Y chromosome in 6 populations in China. Methods Allelic specific polymerase chain reaction and 2% agarose gel electrophoresis and 6% PAGE were used to analyze the genetic polymorphism of 343 unrelated males, representing 6 populations in China, including Fujian Hans, Sichuan Hans, Mongolian, Hezhen, Sibo and Hui from the South, Northeast and Northwest. Results Thirty haplogroups were observed, and 3 of them (H15,H16, H18) were seen in all of the six populations. Although the heterozygosity levels of the Hezhen, Mongolian, Sibo populations are similar and those of the other 3 populations (Fujian Hans, Sichuan Hans, Hui) are similar, the pairwise differences among haplogroups are significant. Analysis of molecular variance (AMOVA) and principal component (PC) analysis of the haplogroup distributions suggested highly different allele diversity between group Ⅰ including Hezhen, Mongolian, Sibo and group Ⅱ including Hui, Fujian Hans, Sichuan Hans. Conclusion The above analyses show more significant variance components in Northeast/South populations and clearly reveal the geographic genetic relationship among the six populations in the Northeast/Northwest/South. These results confirm the complexity of the genetic structure of Chinese populations and make a significant contribution for constructing the contemporary human gene pool and tracing genetic dispersal trail from Chinese populations.

关 键 词：单核苷酸多态性 Y染色体单体群 等位基因多样性 分子变异分析 

分 类 号：R394[医药卫生—医学遗传学]