Frey D, Mächler M, Seger R, Schmid W, Orkin S H
Institute of Medical Genetics, University of Zurich.
Blood. 1988 Jan;71(1):252-5.
In a patient suffering from X-linked chronic granulomatous disease (X-CGD)--a disorder of phagocytesuperoxide generation--and McLeod syndrome, characterized by the absence of the red cell Kell antigen, we identified a deletion of the entire X-CGD gene by means of DNA hybridization with a cDNA probe. Our findings suggest that the X-CGD and McLeod loci are physically close in the p21 region of the X chromosome proximal to the Duchenne muscular dystrophy locus.
在一名患有X连锁慢性肉芽肿病(X-CGD,一种吞噬细胞超氧化物生成障碍疾病)和麦克劳德综合征(其特征为红细胞凯尔抗原缺失)的患者中,我们通过用cDNA探针进行DNA杂交,鉴定出整个X-CGD基因存在缺失。我们的研究结果表明,X-CGD和麦克劳德基因座在X染色体p21区域,与杜兴氏肌营养不良基因座相邻,在物理位置上很接近。