Molecular qenetics of hypertension

我们评估了SA基因位点是否也参与了人类原发性高血压的发病机制，以及血管紧张素转换酶和血管紧张素原的基因多态性是否参与了几种心血管疾病的发病机制。我们测定了人类SA cDNA的序列，确认该基因位于人类染色体16p13-11上。利用Pst - 1限制性片段长度多态性对该基因位点与高血压的关系进行了研究。在我们日本医院的人群中，该基因的次要等位基因在高血压患者中的频率明显高于正常血压患者。根据我们在澳大利亚的同事，小等位基因在肥胖高血压患者中的频率似乎高于肥胖正常高血压患者，这是他们正在研究的。2 .血管紧张素原基因TT基因型是日本人群青少年高血压的危险因素，而高体重指数是迟发性高血压的危险因素。我们已经证实，血管紧张素转换酶基因DD基因型是心肌梗死后左室肥厚的危险因素，也是随后左室功能障碍的危险因素。

We assessed whether SA gene locus might be also involved in pathogenesis of hypertension in human essential hypertension, and also assessed whether gene polymorphism in angiotensin converting enzyme and angiotensinogen might be involved in pathogenesis of several cardiovascular diseases.1. We determined the sequence of human SA cDNA and confirmed that this gene was located on human chromosome 16p13-11. Association study between this gene locus and hypertension was performed employing Pst I restrication fragment length polymorphism. In our Japanese hospital-based population, the frequency of the minor allele of this gene was significantly higher in hypertensive subjects than in that in normotensive subjects. According to our collegues in Australia, the frequency of the minor allele seems to be higher in obesitic hypertensive subjects than that in obestic normotensive subjects, which is being pursued by them.2. TT genotype of the angiotensinogen gene was a risk factor of juvenile-onset hypertension in our Japanese population, and high body mass index was risk factor of late-onset hypertension.3. WE have confirmed that DD geneotype of the angiotensin converteing enzyme gene is a risk factor of left ventricular hypertrophy and a risk factor of subsequent left ventricular dysfunction after myocardial infarction.