新疆哈萨克族ADD1基因Gly460Trp多态性同高血压病的关联  

Connection between ADD1 Gene Gly460Trp Polymorphism and Essential Hypertension from Xinjiang Kazakhs

作　　者：张朝霞[1] 刘燕[2] 林仁勇[1] 汪师贞[1] 王笑峰[3] 温浩[1] 金力[3] 

机构地区：[1]新疆医科大学第一附属医院中心实验室,乌鲁木齐830054 [2]新疆医科大学第一附属医院生物化学教研室,乌鲁木齐830054 [3]复旦大学生命科学学院遗传学研究所,上海200433

出　　处：《复旦学报（医学版）》2005年第2期239-242,共4页Fudan University Journal of Medical Sciences

摘　　要：目的　探讨在新疆哈萨克族遗传隔离群中内收蛋白α亚单位 (α adducin ,ADD1)基因第 10外显子Gly4 6 0Trp多态性同高血压病 (essentialhypertension ,EH)的关系。方法　收集哈萨克族EH组 2 78例 ,正常血压(normaltensive ,NT)组 2 2 0例。测定EH患者和NT者体重指数、空腹血糖、血浆胆固醇、三酰甘油。提取白细胞基因组DNA。用MS PCR法检测ADD1基因Gly4 6 0Trp多态性。 结果　Gly4 6 0Trp多态性符合Hardy Weingerg平衡。Gly4 6 0Trp基因型频率 (P =0 .5 4 )及等位基因频率 (P =0 .4 5 )分布在EH组及NT组无统计学差异。对未治疗的EH者 ,未发现Gly/Gly、Gly/Trp、Trp/Trp基因型间血压、体重指数、血糖、血脂水平有显著性差异。 结论　ADD1基因Gly4 6 0Trp多态性可能与新疆哈萨克族EH发病无关。Purpose To investigate the relationship between polymorphisms in the ADD1 gene and essential hypertension (EH) in Kazakh. Methods A case-control study was performed in 278 hypertensive and 220 normaltensive (NT) Kazakh subjects,which were randomly selected from Barkol pasture.A previous medical history of diabetes and hypertension,body mass index (BMI) was recorded.Fasting plasma glucose,triglyceride,and cholesterol were measured.The variants Gly460Trp of α-adducin (ADD1) gene were determined using a mutagenically separated polymerase chain reaction(MS-PCR) technique. Results The distributions of Gly/Trp,Trp/Trp,Gly/Gly genotypes for Gly460Trp polymorphisms in Kazakh NT subjects were 55.0%,18.6%,26.4%.respectively.The distributions of genotypes and alleles for Gly460Trp polymorphisms of ADD1 gene did not differ significantly between hypertensive subjects and NT controls.Further analyses showed no association between Gly460Trp genotypes and Age,BMI,Glu,Triglyceride,Cholesterol,systolic blood pressure (BP) and diastolic BP. Conclusions Hence,no evidence was found to suggest an association of the ADD1 Gly460Trp polymorphism with EH in the Kazakh populations.

关 键 词：新疆哈萨克族 D1基因 高血压病 多态性 AD ADDUCIN 关联 基因组DNA PCR法检测 等位基因频率 体重指数 血浆胆固醇 统计学差异 基因型频率 显著性差异 Trp Α亚单位 正常血压 EH患者 空腹血糖 三酰甘油 血脂水平 外显子 白细胞 未发现 NT 

分 类 号：R73-31[医药卫生—肿瘤] R734.202[医药卫生—临床医学]