X染色体连锁慢性肉芽肿病的DNA连锁分析
DNA linkage analysis of X chromosome-linked chronic granulomatous disease.
作者信息
Baehner R L, Kunkel L M, Monaco A P, Haines J L, Conneally P M, Palmer C, Heerema N, Orkin S H
出版信息
Proc Natl Acad Sci U S A. 1986 May;83(10):3398-401. doi: 10.1073/pnas.83.10.3398.
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.
慢性肉芽肿病（CGD）是一种吞噬细胞疾病，通常作为X染色体连锁性状遗传。先前的家族研究表明，CGD基因座位于X染色体短臂远端（Xp22 - Xpter）。我们使用克隆的多态性DNA探针在CGD家族中进行了连锁分析，结果表明其位置更靠近近端（Xp21）。此外，CGD基因座位于杜兴氏肌营养不良基因座的近端，处于Xp的一个广泛区域内，在该区域中，基于标记之间的物理距离，重组似乎比预期的要多。X染色体CGD基因座的区域定位应有助于CGD基因的分子克隆和吞噬细胞氧化酶系统的分子剖析。
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