Teahan C, Rowe P, Parker P, Totty N, Segal A W
Nature. 1987;327(6124):720-1. doi: 10.1038/327720a0.
Chronic granulomatous disease (CGD) is a rare inherited disorder associated with a profound predisposition to infection due to the lack of a microbicidal oxidase system in the phagocytes of these patients. This syndrome is most commonly inherited through a defect on the X chromosome and the only clearly defined component of the oxidase system, the very unusual cytochrome b (b-245), has been shown to be missing from the cells of these patients. This cytochrome is a heterodimer composed of an alpha-chain of relative molecular mass (Mr) 23,000 (23K) and a 76-92K beta-chain; neither are detectable in neutrophils from X-linked CGD subjects. The defective X-CGD gene has recently been cloned by 'reverse genetics' but the protein predicted from the proposed complementary DNA sequence was not identified. We have purified the beta-chain of the cytochrome and sequenced 43 amino acids from the N terminus. Almost complete homology was obtained between this sequence and that of the complementary nucleotides 19-147 of the sequence of the X-CGD gene, originally designated as a non-coding region.
慢性肉芽肿病（CGD）是一种罕见的遗传性疾病，由于这些患者的吞噬细胞中缺乏杀菌氧化酶系统，导致其极易感染。该综合征最常见的遗传方式是通过X染色体上的缺陷，并且氧化酶系统中唯一明确界定的成分，即非常特殊的细胞色素b（b - 245），已被证明在这些患者的细胞中缺失。这种细胞色素是一种异二聚体，由相对分子质量（Mr）为23,000（23K）的α链和76 - 92K的β链组成；在X连锁CGD患者的中性粒细胞中均无法检测到这两条链。有缺陷的X - CGD基因最近已通过“反向遗传学”克隆出来，但从推测的互补DNA序列预测的蛋白质尚未被鉴定出来。我们已经纯化了细胞色素的β链，并从N端对43个氨基酸进行了测序。该序列与最初被指定为非编码区的X - CGD基因序列的互补核苷酸19 - 147的序列几乎完全同源。
