组织激肽释放酶基因调控序列多态性与高血压关系的初步分析

Pilot study on relationship between the regulatory region polymorphism of human tissue kallikrein gene and essential hypertension

目的 初步探讨组织激肽释放酶基因调控序列启动子多态性与中国人原发性高血压 (EH)的相关性。方法 应用PCR技术结合等位基因特异寡核苷酸片段分析 (ASO)方法 ,对 40例EH患者和正常人的组织激肽释放酶基因用A、B两种探针检测 ,比较两组间的等位基因分布频率差异 ,初步分析该SNP位点与高血压的关系。结果 组织激肽释放酶基因A、B型在对照组中频率为 65 %、10 % ,在高血压组中频率为 60 %、10 % ,两组比较有差异 ,但无统计学意义。结论 在中国汉族人群中 ,该基因位点确实有多态性 ;A、B两型均有分布 。

Objective To study the association of the single nucleotide polymorphism (SNP) in the promoter region of Chinese tissue kallikrein gene with essential hypertension.Methods A and B alleles were detected by polymerase chain reaction and allele-specific oligonucleotide analysis (ASO) in 20 patients with essential hypertension (EH) and 20 healthy subjects. The frequency of A and B alleles in patients with EH was compared with that in healthy subjects.Results Frequencies of A and B alleles had no statistical difference (P>0.05) between EH (60% and 10% respectively) and healthy subjects (65% and 10% respectively).Conclusion A and B alleles are two types of polymorphism in the Han nationality′s tissue kallikrein gene.