摘要
目的:应用第10号染色体的HapMap单核苷酸多态性(SNP)基因分型数据及人群聚类分析技术区分人亚群。方法:从HapMap数据库(r23)获取北京汉族人、欧裔和非裔3个人群225个样本的第10号染色体共4660余万个SNPs分型结果,提取在3个群体间等位基因频率差值大于0.3的SNPs,以Genepop4.0软件计算固定系数(Fst),以Structure2.3软件进行聚类分析。结果:在3个群体间得到等位基因频率差值大于0.3的SNPs共2910个,位于该染色体长臂末端118000000bp处的rs10510019、rs10787669、rs713252与rs919613的Fst均大于0.660,平均Fst为0.674,该4个SNPs处于强连锁不平衡状态,形成一个跨度为13455bp的区域。结论:包含4个SNPs的祖先信息标记区域的发现,可以有效提示某个人是否归属于欧裔、非裔或北京汉族人群,并为组建复合PCR体系提供了备选SNPs。
Aim：To distinguish the population substructure with the HapMap SNP genotyping data of chromosome 10 and the ancestry information reconstructing strategy.Methods：More than 46.6 million SNP genotypes on chromosome 10 of 225 individuals from Han Chinese in Beijing,European-American and African were obtained from the HapMap database（r23）.Computer programs edited with Visual Basic Application（VBA） languages were used to extract SNPs with allele frequency variations greater than 0.3 between any two of the three populations.Fixation Index（Fst） values were calculated with Genepop 4.0.Cluster analysis was performed with Structure 2.3.Results：A total of 2 910 SNPs were found to have allele frequency variations greater than 0.3 between any two of the three populations,among which rs10510019,rs10787669,rs713252 and rs919613 were found to have high Fst values greater than 0.660 and an average Fst value at 0.674.Further analysis showed that they were in strong linkage disequilibrium,forming a region of 13 455 bp.Conclusion：The identification of such an ancestry informative region containing 4 SNPs could be used efficiently to disclose whether a person belongs to European or African or Han Chinese,and will be able to provide more candidate SNPs for the developing of a multiplex PCR system.
出处
《郑州大学学报（医学版）》
CAS
北大核心
2010年第5期743-746,共4页
Journal of Zhengzhou University(Medical Sciences)
基金
国家自然科学基金资助项目30700966
31071100
