北京汉族人群MAFB基因SNPs等位基因及单体型频率研究  

MAF and haplotype frequencies of SNPs in MAFB gene in Han Chinese in Beijing

作　　者：胡斌 陈倩倩[2] 张博[3] 张天啸[4] 张小龙[5] 王红[5] 

机构地区：[1]山西省运城市中心医院口腔颌面外科,044000 [2]中国疾病预防控制中心公共卫生与信息监测中心 [3]西安交通大学生命学院生物医学工程系 [4]美国华盛顿大学圣路易斯分校 [5]北京大学公共卫生学院流行病与卫生统计学系

出　　处：《现代口腔医学杂志》2014年第4期193-196,共4页Journal of Modern Stomatology

基　　金：国家自然科学基金资助项目(81273164)

摘　　要：目的为病因学研究中MAFB基因单核苷酸变异（SNV）研究位点的确定提供依据。方法利用Haploview软件和千人基因组计划提供的遗传学数据,对MAFB基因单核苷酸多态（SNP）位点的最小等位基因频率（MAF）、单体域及单体型进行分析。结果千人基因组计划在MAFB基因编码区及3＇和5＇端之间共测定了3196个SNV位点。位于基因3＇端39255548与39282720间的106个SNVs中,81个MAF〉1且符合Hardy-Weinberg平衡,其中27个与其它SNP间r2=1。其余54个SNPs中,MAF位于0.01-和0.45-组段者所占比例最高,分别为35.19和27.78。54个SNPs所形成的5个单体域均以频率最高的2种单体型为主,累计频率为73.7~98.9。结论千人基因组计划比illumina 610芯片提供了更丰富的SNPs遗传标记,检出并避免利用无效或低效SNPs进行关联研究,可提高研究的把握度和效率。Objective To provide scientific basis for single nucleotide polymorphisms（SNPs）determination for MAFB gene related etiologic studies. Methods Genotypes for SNPs located 39255548 to 39282720 in the MAFB gene of97 Northern Chinese Han individuals from 1000 genomes were analyzed for minor allele frequencies（MAF）, haplotype frequencies and linkage disequilibrium（LD） patterns by Haploview program. Results A total number of 3196 single nucleotide variants（SNVs） were released in MAFB gene by 1000 genomes. Among 106 SNVs located 39255548 to39282720 of the gene, 81 SNPs have MAF 1and are under Hardy-Weinberg equilibrium where 27 SNPs are in complete LD with other SNPs（r2=1）. For the remaining 54 eligible SNPs, MAFs fall into the intervals of 0.01- and 0.45 for 35.19and 27.78of the SNPs, respectively. Five haplotype blocks were formed by these 54 SNPs with frequencies for the top two haplotypes ranged from 73.7to 98.9%. Conclusion 1000 genomes provides more detailed SNV information compared to illumina 610 chips for SNPs determination. Avoiding SNVs with MAF1can improve power for genetic association studies.

关 键 词：MAFB 1000 GENOMES 最小等位基因频率 单体型频率 Haploview HARDY-WEINBERG 平衡 

分 类 号：R394[医药卫生—医学遗传学]