【摘要】 目的探讨原发性高血压(EH)肾损害及肾实质性高血压胰岛素受体(IN SR)基因第17外显子多态性,从遗传学角度寻求其病因。方法应用多聚酶链反应和单链构象多态性分析(SSCP)等技术,对原发性高血压肾功能正常(EH-NRF组)、高血压肾损害肾功能衰竭(EH-CRF组)、肾实质性高血压肾功能正常(RH-NRF组)、肾实质性高血压肾功能衰竭(RH-CRF组)及正常血压(NC组)的全血IN SR基因第17外显子多态性进行研究。结果四组患者与正常对照组IN SR基因第17外显子SSCP均显示三种不同的带型,分别称为带型Ⅰ(野生型)、带型Ⅱ(突变型)、带型Ⅲ(突变型)。EH-NRF组及EH-CRF组突变频率(带型Ⅱ+带型Ⅲ)明显高于RH-NR组、RH-CRF组及NC组(P<0.05)。各带型在RH-NRF组、RH-CRF组及NC组间出现的频率无显著性差异。结论①IN SR基因第17外显子多态性与中国人EH有关,EH患者突变率明显高于RH患者。IN SR基因第17外显子多态性改变与EH是否并发肾损害无关。②肾实质性高血压患者无论是否并发肾功能衰竭,均未发现IN SR基因第17外显子多态性改变。更多还原

【Abstract】 [Objective] To investigate the relationship between polymorphism of insulin receptor(INSR) gene Exon 17 with hypertensive nephrosclerosis and renal hypertension.[Methods] Polymerase chain relation(PCR) combined with single strand conformation polymorphism(SSCP) was used to detect and analyse the NsiI polymorphism of INSR gene Exon 17 in normal renal function of essential hypertension(EH-NRF),renal failure of hypertensive nephroselerosis(EH-CRF),normal renal function of renal hypertension(RH-NRF),renal failure of renal hypertension (RH-CRF) and normal control subjects(NC).[Results] Three different patterns of the PCR products in SSCP,which called band pattern Ⅰ,Ⅱ respectively,were presented in all four patient groups and normal control subject.The mutation frequency of EH-NRF and EH-CRF was remarkblely higher than those of RH-NRF,RH-CRF and NC(P<0.05).there was no diference between patients of EH-NRF and EH-CRF.Among the patients of RH-NRF,RH-CRF and NC,there was no diference in frequency of all band pattern.[Conclusions] ①The polymorphism of INSR gene Exon 17 was associated with EH and the mutation frequency of EH was remarkblety higher(band Ⅰ+Ⅱ) than that of RIt.②The polymorphism of INSR gene Exon 17 has unconcern with EH whether complicated by renal damage and with renal damage complicated by hypertension as well.更多还原