Clinical significance of polymorphism in cGMP-related genes on blood pressure control in humans.

本研究的目的是评价cgmp相关基因在控制人类血压中的作用。知情同意后，分别抽取血压正常者（n=180，平均血压124/74 mmHg）和高血压者（n=189，平均血压162/93 mmHg）的血样。提取的基因组采用PCR直接测序法检测胍基环化酶a基因序列多态性，胍基环化酶a是两种主要的利钠肽受体之一。结果，我们在22个外显子和21个长度为16kb的内含子的整个跨度中检测到5个多态性。在这项研究中，我们研究了其中一个多态性，该基因的5' franking病变的CT重复在300中。除了已报道的（CT） 10,11,12个重复外，我们还检测到（CT）6个重复。此外，（CT）6的等位基因频率在正常和高血压之间似乎有显著差异。另一方面，（CT） 10、11、12次重复的等位基因频率似乎没有显著差异。我们现在正在确认我们的结果，并讨论它对人类血压控制的意义

The purpose of this study was to evaluate the significance of the effect of cGMP-related gene on controlling blood pressure in humans. After the informed consents, blood sample was drawn from normotensive (n=180, mean blood pressure 124/74 mmHg) and hypertensive (n=189, mean blood pressure 162/93 mmHg). Extracted genome was subjected to PCR direct sequence method to detect polymorphism in the sequence of guanylyl cyclase-A gene, which is one of the two major types of receptors for natriuretic peptides. As a result, we had detected 5 polymorphisms through the whole span of 22 exsons and 21 introns which length is 16kb. In this study, we investigated one of those polymorphisms, CT repeats in-300 by of 5' franking lesion of this gene. We detected the existence of (CT)6 repeats in addition to already reported (CT) 10, 11, 12 repeats. Moreover, the allele frequency of (CT)6 seems to be significantly different between normotensive and hypertensive. On the other hand, there seems to be no significant difference in the allele frequency of (CT) 10, 11, 12 repeats. We are now confirming our results and on the discussion about its significance on blood pressure control in humans