Question

The disease cystic fibrosis (CF) is caused by a mutation to the CFTR gene which affects the respiratory, endocrine, reproductive, and digestive systems. The most common cystic fibrosis allele is missing three bases compared to the normal allele, resulting in the loss of one amino acid in the CFTR protein. What kind of mutation caused the cystic fibrosis allele?

Answer 1

Answer: DF508 mutation. A Genetic, Hereditary, Autosomal and Recessive Mutation.

Explanation:

Cystic fibrosis (CF) is a recessive autosomal lethal disease, it is most common on Caucasoid populations. Its diagnosis is suggested by the clinical features of chronic obstructive pulmonary disease, persistent pulmonary colonization (particularly with mucoid Pseudomonas strains), meconium ileus, pancreatic insufficiency with or familiarity history of the disease. The FC gene is large, with about 250 Kb of genomic DNA, 27 exons representing about 5% of genomic DNA; encodes a 6.5 kb transcribed mRNA. This mRNA is transcribed into a protein of 1480 amino acid called CFTR (Regulator Transmembrane Conductance Cystic Fibrosis). When a three-base pair deletion, adenosine-thymine-thymine (ATT) identified in the CFTR gene, exon 10, it results in the loss of a single amino acid phenylalanine at position 508 of the protein. This mutation is called DF508; “D” stands for deletion and “F” for phenylalanine amino acid.