vi medicine informatics




Cystic fibrosis (CF) is an autosomal recessive disease that most commonly occurs in the white population. The most common mutation of CFTR protein, delta F508 (class II) is on chromosome 7 and is found in approximately 70% of patients with CF worldwide. It is a deletion of three nucleotides for phenylalanine (hence, the F) at positions 507 and 508 (hence, the 508) of the CFTR gene, which causes misfolding that prevents the product’s movement from the endoplasmic reticulum to the Golgi apparatus (cell trafficking).

tags: oneliner