【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。更多还原

【Abstract】 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.更多还原