Pignatti P F, Bombieri C, Marigo C, Benetazzo M, Luisetti M
Institute of Biology and Genetics, University of Verona School of Medicine, Italy.
Hum Mol Genet. 1995 Apr;4(4):635-9. doi: 10.1093/hmg/4.4.635.
In order to identify a possible hereditary predisposition to the development of obstructive pulmonary disease of unknown origin, we have looked for the presence of Cystic Fibrosis Transmembrane Regulator (CFTR) gene mutations in unrelated patients with no signs of Cystic Fibrosis (CF). We screened for 70 common mutations, and also for rare mutations by denaturing gradient gel electrophoresis analysis. In this search, different CFTR gene mutations (R75Q, delta F508, R1066C, M1137V and 3667ins4) were found in five out of 16 adult Italian patients with disseminated bronchiectasis, a significant increase over the expected frequency of carriers. Moreover, three rare CFTR gene DNA polymorphisms (G576A, R668C, and 2736 A-->G), not deemed to be the cause of CF, were found in two patients, one of which was a compound heterozygote with R1066C. These results indicate that CFTR gene mutations, and perhaps also DNA polymorphisms, may be involved in the etiopathogenesis of at least some cases of bronchiectasis.
为了确定不明原因阻塞性肺病发生可能的遗传易感性，我们在无囊性纤维化（CF）体征的非亲属患者中寻找囊性纤维化跨膜传导调节因子（CFTR）基因突变的存在。我们筛查了70种常见突变，并通过变性梯度凝胶电泳分析筛查罕见突变。在此次研究中，16名患有弥漫性支气管扩张的成年意大利患者中有5名发现了不同的CFTR基因突变（R75Q、ΔF508、R1066C、M1137V和3667ins4），携带者的预期频率显著增加。此外，在两名患者中发现了三种罕见的CFTR基因DNA多态性（G576A、R668C和2736 A→G），其中一名患者为R1066C复合杂合子，这些多态性不被认为是CF的病因。这些结果表明，CFTR基因突变，或许还有DNA多态性，可能至少在某些支气管扩张病例的发病机制中起作用。
