Rowntree Rebecca K, Harris Ann
Paediatric Molecular Genetics, Institute of Molecular Medicine, Oxford University, John Radcliffe Hospital, Oxford, OX3 9DS, UK.
Ann Hum Genet. 2003 Sep;67(Pt 5):471-85. doi: 10.1046/j.1469-1809.2003.00028.x.
Cystic fibrosis is a common autosomal recessive disorder that primarily affects the epithelial cells in the intestine, respiratory system, pancreas, gall bladder and sweat glands. Over one thousand mutations have currently been identified in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene that are associated with CF disease. There have been many studies on the correlation of the CFTR genotype and CF disease phenotype; however, this relationship is still not well understood. A connection between CFTR genotype and disease manifested in the pancreas has been well described, but pulmonary disease appears to be highly variable even between individuals with the same genotype. This review describes the current classification of CFTR mutation classes and resulting CF disease phenotypes. Complex disease alleles and modifier genes are discussed along with alternative disorders, such as disseminated bronchiectasis and pancreatitis, which are also thought to result from CFTR mutations.
囊性纤维化是一种常见的常染色体隐性疾病，主要影响肠道、呼吸系统、胰腺、胆囊和汗腺中的上皮细胞。目前已在囊性纤维化跨膜传导调节因子（CFTR）基因中鉴定出一千多种与CF疾病相关的突变。关于CFTR基因型与CF疾病表型之间的相关性已有许多研究；然而，这种关系仍未得到充分理解。CFTR基因型与胰腺疾病表现之间的联系已有详尽描述，但即使在具有相同基因型的个体之间，肺部疾病似乎也具有高度变异性。本综述描述了CFTR突变类别的当前分类以及由此产生的CF疾病表型。还讨论了复杂疾病等位基因和修饰基因，以及其他疾病，如播散性支气管扩张和胰腺炎，这些疾病也被认为是由CFTR突变引起的。
