Wahab Abdul, Al Thani G, Dawod S T, Kambouris M, Al Hamed M
Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
J Trop Pediatr. 2004 Apr;50(2):120-2. doi: 10.1093/tropej/50.2.120.
Cystic fibrosis (CF) is rare in non-Caucasian populations, and in such populations little is known about the spectrum of mutations and polymorphisms in the cystic fibrosis transmembrane conductance (CFTR) gene. We report the detection of a very rare CFTR mutation 1525-1G>A in intron 9 in a 5-year-old Pakistani child with typical clinical features of CF. It remains to be seen whether mutation 1525-1G>A is characteristic of Pakistani ethnicity with CF or associated with severe phenotypic features.
囊性纤维化（CF）在非白种人群中较为罕见，对于这类人群中囊性纤维化跨膜传导调节（CFTR）基因突变和多态性的情况知之甚少。我们报告了在一名患有典型CF临床特征的5岁巴基斯坦儿童中检测到第9内含子中一种非常罕见的CFTR突变1525-1G>A。1525-1G>A突变是否为患有CF的巴基斯坦族裔所特有，或者是否与严重的表型特征相关，仍有待观察。
