摘要
目的研究血管紧张素Ⅱ受体Ⅰ型基因(AT1R)3′端CA重复序列多态性在中国汉族人分布规律及与高血压病的关系。方法应用扩增片段长度多态性方法,对来自山东和西安两地的汉族人群进行血管紧张素Ⅱ受体Ⅰ型基因3′端重复多态性分析。结果在所研究人群中AT1R基因3′端重复序列存在9种等位基因(A1~A9),扩增长度为130bp~146bp,其频率介于0.01~0.38,以扩增长度为140bp的A4等位基因最为常见,其次为A3和A7,分布符合Hardy-Weinberg遗传平衡定律,CA重复多态杂合率为0.789,多态信息量(PIC)为0.746。与白种人相比等位基因分布趋势无显著性差异,但个别等位基因相对频率存在不同程度的差异,白种人A4等位基因频率高于中国人。原发性高血压人群AT1R基因CA重复多态分布与正常人群有显著性差异(P<0.01)。结论AT1R基因3′端CA重复多态性标志与中国汉族人高血压病相关。
Objective To observe the CA repeat polymorphism of the type Ⅰ angiotensin Ⅱ receptor gene on Chinese Han people, and evaluate the genetic linking to hypertension.Methods The CA repeat polymorphism at 3′ flanking region of AT1R gene was studied by amplified fragment length polymorphism (Amp FLP) in Chinese Han people from Shandong and Xi'an.Results There were 9 alleles ranging from 130bp to 146bp in all subjects. The allele frequencies were 0.01 to 0.38, and allele A4 was more frequent in the control.The heterozygosity of CA repeat locus was 0.789,the polymorphic information content, 0.746. There was no significant difference in distribution of CA repeat polymorphism genotype between different regions in same ethnic( P >0 05),but the allele frequency of CA repeat polymorphism in hypertensive group was significantly different from that of control ( P <0 05).There was no detectable distortion from Hardy Weinberg equilibrium in both groups.Conclusion The results suggest that CA repeat polymorphism of AT1R gene be associated with Chinese Han hypertensive people.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1999年第2期81-84,共4页
Chinese Journal of Medical Genetics
基金
国家自然科学基金
关键词
原发性
高血压
AT1R
CA重复多态性
遗传
Essential hypertension
Angiotensin Ⅱreceptor gene type Ⅰ
CA repeat polymorphism