Everybody has two copies of a CFTR gene, and for someone to have CF, both copies of the gene must be mutated. The CFTR gene has been shown to contain over 1,700 mutations.
The CFTR (cystic fibrosis transmembrane conductance regulator) genes is inherited twice in each person. The inherited copies do include some alterations, though. Over 700 different CFTR gene mutations have been found thus far. Two mutant alleles of the Gene encoding are passed down to CF patients. Protein synthesis, protein processing, protein gating, conduction, and inadequate protein are the five categories of CFTR mutations. F508del, the most prevalent CF mutation, is generally thought to be a proteins degradation abnormality. This cystic fibrosis transmembrane regulator (CFTR) has more than 2000 known mutations, which result in a variety of molecular, cellular, and functional abnormalities.
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