α-内收蛋白Gly460Trp变异与中国汉族人原发性高血压的相关性研究  

Is Gly460Trp variant of α-adducin associated with essential hypertension in the Hans of Chinese population

作　　者：侯嵘[1] 刘治全[2] 薛明战 王永兴 叶涛[3] 孙超峰[2] 王哲训[2] 刘艳[2] 

机构地区：[1]北京医科大学第三医院血管医学研究所博士后流动站,100083 [2]西安医科大学第一附属医院心内科,710061 [3]陕西省汉中市人民医院心内科

出　　处：《中华医学遗传学杂志》2000年第6期413-416,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金!(39870 333)

摘　　要：目的　探讨内收蛋白 α亚单位 (α-内收蛋白 )变异与中国汉族人原发性高血压发病的关系。方法　以 183例汉族原发性高血压患者和 12 9名血压正常者为研究对象 ,从外周血白细胞中提取基因组DNA,采用聚合酶链式反应、单链构象多态性分析及 DNA序列测定等分子生物学技术 ,对 α-内收蛋白基因第 10外显子部分序列进行基因变异检测 ,并对身高、体重、血压等临床资料进行测定。结果　发现在 α-内收蛋白基因第 10外显子的第 6 14位核苷酸存在 G被 T替换的变异 ,使其氨基酸序列第 46 0位的甘氨酸 (Gly)被色氨酸 (Trp)取代 (Gly46 0 Trp) ,Gly/ Gly、Gly/ Trp和 Trp/ Trp3种基因型在人群中的分布符合 Hardy-Weinberg遗传平衡。该变异在原发性高血压患者与血压正常者中的频率分布差异无显著性 (P>0 .0 5 ) ,3种基因型个体在年龄、体重指数和血压等方面差异亦无显著性 (P>0 .0 5 )。结论　在本研究中 ,中国汉族人 α-内收蛋白基因第 10外显子第 6 14位存在 G/ T基因分子变异 。Objective To determine whether the variant of adducin α subunit (α adducin) is in association with essential hypertension in the Hans of Chinese population. Methods One hundred and eighty three patients with essential hypertension and 129 normotensive subjects were included in this study. Genomic DNA was isolated from 3 ml of whole blood. Polymerase chain reaction, single strand conformational polymorphism and DNA sequencing analysis techniques were used to detect the variant in the exon 10 of α adducin gene . The clinical data of height, weight and blood pressure were also measured in all subjects. Results A G→T substitution at nucleotide 614 in exon 10 of α adducin gene which resulted in the Gly460Trp variant was found in the Hans. The distribution of Gly/Gly, Gly/Trp and Trp/Trp genotypes was coincident with Hardy Weinberg equilibrium and there were no statistical differences in the three genotypes and Trp allele frequencies between hypertensive and normotensive subjects ( P >0 05). The variant of α adducin genotypes was not associated with any significant differences in age, body mass index and blood pressure. Conclusion A G→T substitution at nucleotide 614 in exon 10 of α adducin gene is found, but there is lack of the association between the variant of α adducin gene and essential hypertension in the Hans of Chinese population.

关 键 词：原发性高血压 Α-内收蛋白 基因 变异 

分 类 号：R544.1[医药卫生—心血管疾病]