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慢性肉芽肿疾病(CGD)是一种以反复发作的化脓性感染为特征的少见的遗传病。此病为X-连锁遗传,常染色体隐性遗传者罕见。这类病人的吞噬细胞(PC)摄入微生物的作用正常,但其膜关联的NADPH氧化酶不能产生超氧物和进行有关毒性氧的代谢,故不能杀灭微生物。这种氧化酶是含有一种独特的细胞色素b(Cyt b)的一种多组份复合物。最近的研究表明,此Cyt b是由一条91kd的糖基化重链(HC)和一条22kd的轻链组成的一种异二聚体,HC基因的突变是导致X-连锁的CGD的原因。
Chronic granulomatous disease (CGD) is a rare genetic disorder characterized by recurrent septic infections. The disease is X-linked genetic, autosomal recessive rare. The phagocytic cells (PC) of these patients have intact microbial ingestion, but their membrane-associated NADPH oxidase is unable to produce superoxide and to metabolize toxic oxygen and therefore can not kill microorganisms. This oxidase is a multi-component complex containing a unique cytochrome b (Cyt b). Recent studies have shown that this Cyt b is a heterodimer consisting of a 91 kd glycosylated heavy chain (HC) and a 22 kd light chain, and mutations in the HC gene are responsible for X-linked CGD.