RESPIRATORY
FIBROTIC LUNG DISEASE
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Question
[CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
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TRUE
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False
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Either A or B
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None of the above
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Detailed explanation-1: -To date, over 700 mutations of the CFTR gene have been identified. A person with CF inherits two mutated copies of the CFTR gene. These mutations can either be homozygous, the same, or heterozygous, different mutations. The most common mutation is delta F508, accounting for approximately 70% of all mutations.
Detailed explanation-2: -Cystic Fibrosis CF is inherited in an autosomal recessive manner. The most common mutation in the CFTR gene is F508, a frameshift mutation caused by a three base-pair deletion at codon 508 in exon 10 of CFTR, resulting in the absence of a phenylalanine residue.
Detailed explanation-3: -The delta F508 mutation causes a diminution in the amount of beta-stranded structure and a concomitant increase in the amount of random coil structure present, indicating that either the mutant peptide has a different native structure or that the conformational equilibrium is shifted toward a more disordered form.