血管紧张素Ⅱ受体Ⅰ型基因3′端CA重复多态性及与汉族人高血压病的关系

Genetic linkage of polymorphisms of type Ⅰ angiotensin Ⅱ receptor gene to Chinese Han hypertension

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.