正常汉族人群FcαR1基因结构研究  

Architecture of FcαR1 gene in Chinese Han population in Guangdong province

作　　者：古宏标[1] 黄玮俊[1] 陈素琴[1] 胡彬[1] 李彩霞[1] 王一鸣[1] 

机构地区：[1]中山大学中山医学院医学遗传教研室

出　　处：《中国病理生理杂志》2006年第8期1489-1492,共4页Chinese Journal of Pathophysiology

基　　金：美国中华医学基金资助项目(No.98-67705-827);国家自然科学基金资助项目(No.3017043430570869);广东省自然科学基金资助项目(No.5002851No.013140)

摘　　要：目的:构建我国汉族人群FcαR1基因单倍型及单倍型域。方法:提取100例正常广东汉族人基因组,分段扩增FcαR1基因并直接测序鉴定SNP基因型。选取MAF>0.10的SNP构建单倍型及单倍型域。结果:汉族人群FcαR1基因共有3个单倍型域,每个单倍型域中包含的单倍型数3至7个,平均为5.33个,单倍型域中常见单倍型数2至3个,平均2.3个。结论:FcαR1基因存在单倍型及单倍型域,本研究结果将为进一步以该基因为候选基因进行疾病基因定位奠定基础。AIM ： To construct the SNP haplotypes and the haplotype blocks of FcαR1 gene in Chinese Han population in Guangdong province. METHODS： Genomic DNA was extracted from 100 healthy Chinese Han subjects. Genotypes of the SNPs in FcαR1 gene were determined by PCR and direct sequencing. Constructing the SNP haplotypes and the haplotype blocks of FcαR1 gene by 12 SNPs that is its minor allele frequency were more than 0. 1 with Haploview soft. RESULTS： There are 3 haplotype blocks in FcαR1 gene in Chinese Han population in Guangdong province. The number of haplotypes in each haplotype blocks was from 3 to 7 （ average 5.33 ）. However, the number of common haplotypes in each blocks was from 2 to 3 （ average 2. 3 ）. CONCLUSION ： Our results show the existence of the block - like structures and the common haplotypes in each block in FcαR1 gene. It provides a useful tool for the genome research and the mapping of disease contributing genes/variants in this gene.

关 键 词：基因 FcαR1 单元型 单元型域 

分 类 号：R394.5[医药卫生—医学遗传学]