Pelham A, O'Reilly M A, Malcolm S, Levinsky R J, Kinnon C
Department of Immunology, Institute of Child Health, London, England.
Blood. 1990 Aug 15;76(4):820-4.
The molecular basis of X-linked chronic granulomatous disease (X-CGD) has recently been elucidated and the defective gene identified and isolated. Two restriction fragment-length polymorphisms have been identified using the X-CGD cDNA probe. We have analyzed eight families with X-CGD and seven normal, unrelated females and have demonstrated that these polymorphisms are not in linkage disequilibrium. This should increase to approximately 50% the proportion of families to whom first-trimester prenatal diagnosis can be offered. Unambiguous determination of carrier status in related females in informative families will also be possible. In addition, we have identified an apparently unique small deletion in the X-CGD gene in a family affected by this disease, members of which are not informative for either polymorphism. This will allow prenatal diagnosis and carrier determination in this family.
X连锁慢性肉芽肿病（X-CGD）的分子基础最近已被阐明，缺陷基因已被鉴定和分离。使用X-CGD cDNA探针已鉴定出两种限制性片段长度多态性。我们分析了8个患有X-CGD的家系和7名正常、无亲缘关系的女性，结果表明这些多态性不存在连锁不平衡。这将使能够提供孕早期产前诊断的家系比例增加到约50%。在信息丰富的家系中，也能够明确确定相关女性的携带者状态。此外，我们在一个受该病影响的家系中发现了X-CGD基因中一个明显独特的小缺失，该家系成员对于这两种多态性均无信息价值。这将有助于该家系的产前诊断和携带者确定。
