Cystic Fibrosis Common Mutations

Cystic fibrosis (CF), in the classic form, is a severe autosomal recessive disorder characterized by a varied degree of chronic obstructive lung disease and pancreatic enzyme insufficiency. The incidence of CF varies markedly among different populations, as does the mutation detection rate for the mutation screening assay. To date, over 1,500 mutations have been described within the CF gene, named cystic fibrosis transmembrane conductance regulator (CFTR). The most common mutation, deltaF508, accounts for approximately 67% of the mutations worldwide and approximately. Most of the remaining mutations are rather rare, although some show a relatively higher prevalence in certain ethnic groups or in some atypical presentations of CF such as congenital bilateral absence of the vas deferens (CBAVD).

No special preparation is needed for Cystic Fibrosis Common Mutations. Inform your doctor if you are on any medications or have any underlying medical conditions or allergies before undergoing Cystic Fibrosis Common Mutations. Your doctor depending on your condition will give specific instructions.