Egan Marie E
Department of Pediatrics, Yale School of Medicine, 333 Cedar Street, Fitkin 526, New Haven, CT 06520, USA.
Clin Chest Med. 2016 Mar;37(1):9-16. doi: 10.1016/j.ccm.2015.11.002. Epub 2015 Dec 24.
Cystic fibrosis (CF) is a common life-shortening autosomal recessive genetic disorder caused by mutations in the gene that encodes for the cystic fibrosis transmembrane conductance regulator protein (CFTR). Almost 2000 variants in the CFTR gene have been identified. The mutational classes are based on the functional consequences on CFTR. New therapies are being developed to target mutant CFTR and restore CFTR function. Understanding specific CF genotypes is essential for providing state-of-the art care to patients. In addition to the variation in CFTR genotype, there are several modifier genes that contribute to the respiratory phenotype.
囊性纤维化（CF）是一种常见的、会缩短寿命的常染色体隐性遗传病，由编码囊性纤维化跨膜传导调节蛋白（CFTR）的基因突变引起。CFTR基因中已鉴定出近2000种变体。突变类型基于对CFTR的功能影响。目前正在开发针对突变型CFTR并恢复CFTR功能的新疗法。了解特定的CF基因型对于为患者提供最先进的治疗至关重要。除了CFTR基因型的差异外，还有几种修饰基因会影响呼吸表型。
