DNA linkage analysis of X chromosome-linked chronic granulomatous disease.

作者：Robert L. Baehner, Louis M. Kunkel, Anthony P. Monaco, J.L. Haines, Patrick M. Conneally, Catherine S. Palmer, Nyla A. Heerema, Stuart H. Orkin · 发表于：Proceedings of the National Academy of Sciences · 年份：1986 · DOI：10.1073/pnas.83.10.3398 · 被引用次数：122 · 研究领域：Neutrophil, Myeloperoxidase and Oxidative Mechanisms、interferon and immune responses、Cell Adhesion Molecules Research

Chronic granulomatous disease (CGD) is a disorder of phagocytes that is usually inherited as an X chromosome-linked trait. Previous family studies suggested that the CGD locus resides on the distal short arm (Xp22-Xpter). Using cloned, polymorphic DNA probes we have performed a linkage analysis within CGD families that suggests a more proximal location (Xp21). In addition, the CGD locus is proximal to the Duchenne muscular dystrophy locus and lies within a broad region of Xp in which recombination appears to be greater than anticipated on the basis of physical distance between markers. Regional localization of the X chromosome CGD locus should facilitate molecular cloning of the CGD gene and molecular dissection of the phagocyte oxidase system.