囊性纤维化表型变异与修饰基因关系的研究进展

Research Progress of the Relationship between Phenotypic Variability and Modifier Genes in Cystic Fibrosis

囊性纤维化(cystic fibrosis, CF)是由囊性纤维化跨膜传导调节因子(cystic fibrosis transmembrane conductance regulator, CFTR)基因突变引起的一种单基因常染色体隐性遗传病,可引起多个器官系统受累。尽管囊性纤维化临床表型与基因突变种类相关,但即使具有相同突变的个体,也可有不同的疾病表现,而有研究表明修饰基因在这其中起到了关键作用,特别是在囊性纤维化肺部疾病方面。本文就囊性纤维化表型变异与修饰基因关系的相关研究进行综述,并主要介绍肺部表型变异相关的修饰基因。

Cystic fibrosis (CF) is a single gene autosomal recessive condition caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which can cause multiple organ system involvement. Although the cystic fibrosis clinical phenotype is associated with a variety of gene mutations, even individuals with the same mutation can have different disease manifestations, and there are studies suggesting that modifier genes play a key role in this, particularly in cystic fibrosis lung diseases. In this review, we focus on the relationship between CF phenotype and modifier genes, and mainly introduce the modifier genes related to CF lung diseases.