中国汉族人群MAPT基因SNPs等位基因及单体型频率与阿尔茨海默病相关性研究

Correlation Study on SNPs of Allele and Haplotype Frequencies of MAPT Gene with Alzheimers Disease in Han Population of China

目的 用生物信息学方法挑选中国汉族人群中的MAPT基因标签单核苷酸多态性（tag-SNPs）位点,考察中国汉族人群MAPT基因与老年痴呆症的关系.方法 通过Hapmap数据库获取中国汉族人群的MAPT基因SNPs数据;应用Haploview4.2对MAPT基因进行连锁不平衡分析;在D＇值95％可信区间内构建单体域;根据单体域内SNPs之间的r2值和LOD值,挑选标签SNP.结果 MAPT基因70个SNPs中,15个（21.43％） SNPs为纯合基因型,MAF高于10％的SNPs为44个,占62.86％.利用55个合格SNPs确定了26个标签SNPs,构建了8个单体域,各单体域以其前两种单体型为主,累计频率在61.9％-100.0％之间.结论 中国汉族人群MAPT基因的26个SNPs位点是较具代表性的标志性位点,可被选为标签SNPs,并作为中国汉族人群MAPT基因与老年痴呆症的关联研究.

Objective Using bioinformaties methods to scan the tag single nucleotide polymorphisms sites of MAPT gene inHan population of China, for correlation study on SNPs allele and haplotype frequencies of MAPT gene with Alzheimers dis-ease. Methods Obtained SNPs data of MAPT gene in the Han population of China by Hapmap database. MAPT gene＇sLinkage disequilibrium was analysed with Haploview4.2. The haplotype block was constructed in the D＇value of the 95 % confidence interval,and selected tag SNP based on the r2 values and the LOD value of between SNPs in haplotype block. Re-sults There were 15（21.43%） SNPs for homozygous genotype in 70 SNPs of MAPT genes. MAF of SNP higher than 10%were 44 （62.86 % ）. Constructed 8 haplotype blocks within the MAPT gene and selected 26 tag SNPs in Han population ofChina. The frequencies for the top two haplotypes among each of the 8 haplotype blocks were between 61.9 % and 100.0 %.Conclusion MAPT gene in Han population of China one of 26 SNPs loci are more representative of the landmark site,whichcould be selected as tag SNPs,and as the association population study on the MAPT gene Han population with dementia of China.