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Mutation of the Human Prostacyclin Synthase Gene

机译:人前列环素合酶基因的突变

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Biosynthesis of prostacyclin (PGI2) is catalyzed serially by phospholipase A_2 wMch liberates arachidonic acid from the prostaglandin H_2 synthase, a bifunctional enzyme which catalyzes the conversion of arachidonic acid to prostaglandin G_2 and subsequently to prostaglandin H_2, and PGI_2 synthase (PGIS, EC 5.3.99.4) which catalyzes the formation of PGI_2 from prostaglandin H_2. PGIS has been shown to be widely distributed, predominantly in vascular endothelial and smooth muscle cells [1,_2]. An impaired synthesis of PGI_2 has been implicated in the development of essential hypertension (EH), or cerebral infarction (CI). We already determined the organization of this gene [3]. The purpose of this study was to search for possible point mutations in all 10 exons and 5'-flanking region of the PGIS gene in patients with EH or CI.
机译:通过磷脂酶A_2 WMCH释放来自前列腺素H_2合成酶的生物合成催化的前列腺素(PGI2),催化酶的双官能酶,该双官能酶催化植物素酸与前列腺素G_2的转化为前列腺素H_2,以及PGI_2合酶(PGIS,EC 5.3。 99.4)催化来自前列腺素H_2的PGI_2的形成。 PGI已被证明可广泛分布,主要是血管内皮和平滑肌细胞[1,_2]。 PGI_2的合成受损已涉及在原发性高血压(EH)或脑梗死(CI)的发展中。我们已经确定了该基因的组织[3]。本研究的目的是在eH或CI患者中搜索所有10个外显子和5'-侧翼区域的可能点突变。

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