中国北京汉族人群ABCA4基因的SNPs研究  

SNPs analysis of ABCA4 gene in Han Chinese in Beijing

作　　者：张小龙[1] 王红[1] 

机构地区：[1]北京大学公共卫生学院流行病与卫生统计学系,100191

出　　处：《实用口腔医学杂志》2015年第1期53-56,共4页Journal of Practical Stomatology

基　　金：国家自然科学基金(编号:81273164)

摘　　要：目的：研究北京汉族人群中ABCA4基因单核苷酸多态性,为病因学研究提供依据。方法：选取国际人类基因组单体型图计划（Hap Map）公布的北京汉族人群（Han Chinese in Beijing,China,CHB）ABCA4基因SNPs基因型数据,利用Haploview4.2软件对其进行分析。结果：Hapmap提供的343个ABCA4基因的SNPs中,有129个（37.6%）纯合基因型SNPs和214个（62.39%）合格SNPs。本研究共确定95个标签SNPs,构建了3个单体域,各单体域均以前2种单体型为主,累计频率在91.1%-94.0%之间。结论：通过分析北京汉族人群ABCA4基因SNPs数据,得到了标签SNPs、单体域和主要单体型,为进一步的病因学研究打下了基础。Objective：To provide the basis of single nucleotide polymorphism（SNPs）for identification and analysis of ABCA4 gene related etiologic studies in Han Chinese in Beijing（CHB）.Methods：SNPs of ABCA4 gene were analyzed for minor allele frequencies （MAFs）,haplotype frequencies,linkage disequilibrium patterns,and tag SNPs by Haploview program using the HapMap data.Re-sults：129（37.6%）of 343 SNPs were monotonic.95 tagging SNPs were identified in 214 eligible SNPs with 3 haplotype blocks identi-fied.The frequencies of the top 2 haplotypes among each of the 3 haplotype blocks were between 91.1% and 94.0%.Conclusion：SNPs in ABCA4 gene were analyzed by Haploview program.The analysis provides clues for future studies involving this gene.

关 键 词：单核苷酸多态性(SNPs) ABCA4基因 HAP Map Haploview 最小等位基因频率(MAF) 单体型频率 Hardy-Weinberg平衡 

分 类 号：R36[医药卫生—病理学]