人类B型利钠肽受体基因的结构和关联的一种新颖的微卫星多态性与原发性高血压。
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Rehemudula D, Nakayama T, Soma M,高桥Y, Uwabo J,佐藤M,和泉Y, Y Kanmatsuse K,小泽
人类B型利钠肽受体基因的结构和关联的一种新颖的微卫星多态性与原发性高血压。
中国保监会研究》1999年3月19日,84 (5):605 - 10。
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10082481 (在PubMed]
- 文摘
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利钠肽(NP)系统可能起到至关重要的作用在原发性高血压(EH)的发展。这种NP能扩张血管,降低血压,抑制血管平滑肌细胞的增殖通过B型NP受体(NPR-B)。然而,人类原发性高血压NPR-B基因协会还没有被研究过,因为对这个基因的基因组组织。我们设计寡核苷酸引物互补脱氧核糖核酸序列的基础上人类NPR-B基因,和远程聚合酶链反应(PCR)。直接扩增片段的测序,人类NPR-B基因的外显子/内含子组织。直径大约16.5 kbp的基因,由22个外显子,intron-exon连接遵循GT-AG规则。七百五十个碱基对的5’侧翼地区排序使用热不对称interlaced-PCR (TAIL-PCR)方法。这个区域可能包含10 Sp1结合位点和缺乏TATA盒。快速放大的cDNA结束(种族)揭示了转录启动网站-14个基点。CA / GT微卫星重复确认hybridization-based方法,转化为一个sequence-tagged网站(STS)。 The GT microsatellite repeat was localized to intron 2 approximately 150 bp downstream of the exon-intron junction. Two alleles, (GT)10 and (GT)11, were detected in both EH patients and age-matched normotensive (NT) controls. Multiple logistic linear regression analysis indicated that the NPR-B genotype is associated significantly with EH (odds ratio 1.55; 95% confidence interval, 1.02 to 2.35). The (GT)11 frequency was 0.316 (65/206) for the EH group and 0.218 (44/202) for the NT group and differed significantly between the EH and NT groups (chi2=4.97, P=0.026). The structural organization of the human NPR-B gene was determined, and a novel GT repeat polymorphism, which associated with EH, was identified. These results suggest that one cause of EH is a mutation in this gene or a closely related gene or region.