中国3个民族群体Y染色体上17个双等位基因位点的遗传分析

目的研究中国不同民族群体Y染色体的遗传多样性.方法采用PCR和等位基因特定PCR(ASPCR)的方法,对山东汉族、白族和土族共计76份男性DNA样本进行Y染色体上17个双等位基因位点的基因分型,确定每一个体的单倍型,统计3个群体各单倍型的频率分布,与国内其他群体的结果进行对比分析,并进行这些群体的主成分分析.结果有6个位点在3个群体中没有发现多态变异,YAP 在土族、白族和山东汉族中的分布分别为23.8%、6.7%和4%;3个群体共发现11种单倍型,山东汉族7种,土族8种,白族9种,主要单倍型频率集中在H1、H3、H5、H6、H8和H11.主成分分析结果显示白族与北方汉族相近,山东汉族与南方汉族等南方群体聚在一起,土族与彝族、回族和满族相近.结论山东汉族可能与一些南方群体有过基因交流,白族基因池中融入汉族基因流.中亚人群的基因流可能对东亚人群的遗传结构有过影响.

Genetic analysis of 17 biallelic markers on Y chromosome in 3 Chinese ethnic group populations

OBJECTIVE: To study the genetic polymorphism of Y chromosome in different Chinese ethnic group populations. METHODS: Genotypes of 17 biallelic markers located in the nonrecombining portion of the Y chromosome in 76 men from 3 Chinese ethnic group populations (Han in Shandong, Bai in Yunnan, and Tu in Qinghai) were examined with polymerase chain reaction (PCR) and allelic-specific PCR (ASPCR). Their haplotypes made of these 17 binary markers were constructed. The principle component (PC) analysis was conducted based on the haplotype frequency distribution among these 3 and other 15 published Chinese ethnic group populations. RESULTS: The diversities of M50, M110, M103, M88, M3, and M7 were not found in these 3 populations. The frequencies of YAP+ were 23.8%, 6.7%, and 4% respectively in Tu, Bai, and Shandong Han. Eleven haplotypes were found in 3 populations--7 haplotypes (H1, H3, H5, H6, H8, H9, and H11) in Shandong Han (Han.SD), 8 haplotypes (H1, H2, H3, H5, H6, H8, H11, and H16) in Tu, and 9 haplotypes (H1, H3, H4, H5, H6, H8, H9, H11, and H13) in Bai. The predominant haplotypes were H1, H3, H5, H6, H8, and H11. According to PC analysis, Bai was close to Northern Han; Shandong Han, Southern Han (Han.S), Bai and Yunnan Tibetan clustered together; and Tu was close to Yi, Hui and Manchurian. CONCLUSIONS: Shandong Han may have had genetic exchanges with southern populations in China. It has been confirmed that some gene components of Han had flowed into Bai's gene pool. Gene flowed from Central Asia had impacted Chinese western populations.