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醛固酮瘤患者肾素基因启动子区域的聚合酶链反应-单链构象多态性分析

PCR-SSCP analysis of the promoter region of the renin gene in patients with aldosterone-producing adenomas.

作者信息

Ballantine D M, Klemm S A, Tunny T J, Stowasser M, Gordon R D

机构信息

Hypertension Unit, Greenslopes Hospital, Brisbane, Queensland, Australia.

出版信息

Clin Exp Pharmacol Physiol. 1996 Jun-Jul;23(6-7):584-6. doi: 10.1111/j.1440-1681.1996.tb02787.x.

Abstract
  1. Aldosterone-producing adenomas (APA) of the adrenal gland may be responsive or un-responsive to the renin-angiotensin system. 2. We have described increased expression of renin mRNA in angiotensin-responsive aldosterone-producing adenomas (AII-R-APA) compared with angiotensin-un-responsive aldosterone-producing adenomas (AII-U-APA) and significantly different allelic frequencies of the BglI, TaqI and HinfI restriction fragment length polymorphisms of the renin gene between the two groups. 3. An area including the 5' flanking region -500 bp from exon 1, exon 1 and intron A contained no gross insertions or deletions when studied by a long polymerase chain reaction technique. 4. In the present study, polymerase chain reaction-single strand conformation polymorphism analysis (PCR-SSCP) revealed no single base pair alteration in the proximal promoter region (-600 bp to transcription start) of the renin gene in patients with APA (either AII-U-APA or AII-R-APA) when compared with normal subjects. 5. Therefore, mutations in this regulatory region do not appear to explain the different levels of renin gene expression observed in these two subtypes of APA.
摘要
  1. 肾上腺产生醛固酮的腺瘤(APA)可能对肾素-血管紧张素系统有反应或无反应。2. 我们已经描述了与血管紧张素无反应性醛固酮产生腺瘤(AII-U-APA)相比,血管紧张素反应性醛固酮产生腺瘤(AII-R-APA)中肾素mRNA表达增加,并且两组之间肾素基因的BglI、TaqI和HinfI限制性片段长度多态性的等位基因频率存在显著差异。3. 通过长聚合酶链反应技术研究时,一个包括距外显子1 -500 bp的5'侧翼区域、外显子1和内含子A的区域没有明显的插入或缺失。4. 在本研究中,与正常受试者相比,聚合酶链反应-单链构象多态性分析(PCR-SSCP)显示APA患者(AII-U-APA或AII-R-APA)肾素基因近端启动子区域(-600 bp至转录起始点)没有单碱基对改变。5. 因此,该调节区域的突变似乎不能解释在这两种亚型的APA中观察到的肾素基因表达的不同水平。

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