我国汉族人群免疫球蛋白α1基因增强子区域hs1,2 VNTR多态性与高加索人种的比较  

Distribution of α1 Immunoglobulin Gene 3' Enhancer hs1,2 Polymorphisms in Chinese and Its Comparison with Caucasians

作　　者：古宏标[1] 杜勇[2] 黄玮俊[1] 李彩霞[1] 李幼姬[2] 薛超[2] 陈素琴[1] 胡彬[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,广东药学院广东广州510224 [2]中山大学附属第一医院肾内科,广东广州510080

出　　处：《中山大学学报（医学科学版）》2005年第2期134-137,共4页Journal of Sun Yat-Sen University:Medical Sciences

基　　金：国家自然科学基金资助项目(10206)美国中华医学基金资助项目(98-677)广东省自然科学基金资助项目(013140)

摘　　要：【目的】研究我国汉族人群免疫球蛋白α1基因增强子hs1,2 VNTR多态性分布特征,并与已报道的高加索人群特点作比较。【方法】提取201例汉族人基因组DNA,PCR分别扩增含Iα1 hs1,2片段。凝胶电泳分带鉴定基因型,并以测序证实。【结果】我国汉旅人群Ia1 hs1,2 VNTR多态性分布为BB型76例(37.8%), AB型65例(32.3%),AA型24例(12.0%),BC型23例(11.4%)AC型9例(4.5%)CC型4例(2.0%),与国外人群相比,BC、AC、CC型分布频率显著高于高加索人群,而AB型分布频率显著低于高加索人群(x2=73.77, P<0.001)。等位基因频率分析显示我国汉族人群同样与高加索人群存在显著性差异(x2=72.85,P<0.001)。【结论】我国汉族正常人群Iα1 hs1,2 VNTR多态性不同于高加索人群,突出表现为C等位基因频率及BC、AC、CC基因型频率显著高于高加索人群。这种差异有可能是导致一些IgA相关疾病在不同种族间发病率和临床表现型上存在显著差异的因素之一。[Objectives] To investigate the distribution of the polymorphisms in the 3' enhancer hs1,2 region of the al immunoglobulin gene in the Chinese population and its comparison with Caucasians. [Methods] Genomic DNA was extracted form 201 healthy Chinese Han subjects. The sizes of the variable numbers of tandem repeats (VNTR) located in the 3' enhancer hs1,2 region of the al immunoglobulin gene were determined by polymerase chain reaction (PCR) and gel electrophoresis, and confirmed by DNA sequencing. [Results] Three different allele sizes of the VNTR were identified in our subjects. They were assigned as α1A,α1B, and α1C, respectively (represent one, two, and three repeal sequences respectively), with the alleles frequencies of 30.3%, 59.7%, and 10.0%, respectively. Six different genotypes were comprised from the three alleles with the frequencies of 12.0%, 32.3%, 37.8%, 4.5%, 11.4%, and 2.0% for AA, AB, BB, AC, BC, and CC genotypes, respectively. Comparing with the reported Caucasoid population the C allele and the BC, CC, AC genotype frequencies were significantly higher (x2=73.77, P<0.001); the A allele and the AB genotype frequencies were significantly lower (x2=72.85, P<0.001). [Conclusion] The allele and genotype frequencies of Iα1 hs1,2 gene in the Chinese Han population were significantly different from the Caucasians with a higher C allele frequency and BC, AC genotypes, and lower A allele frequency and AB genotype. The results may have implications in the explanations of the different incidences of some IgA-related diseases in the Chinese and Caucasian populations.

关 键 词：免疫球蛋白A 增强子 可变数量串联重复 多态性 

分 类 号：Q987.1[生物学—遗传学]