Describe the gene or genes that causes the disease/disorder of interest; Cystic Fibrosis

Cystic Fibrosis

Cystic Fibrosis is an inherited genetic dysfunction that impacts the manufacturing of mucus and sweat, resulting in issues comparable to lung and digestive issues. Cystic Fibrosis is brought on by mutations within the CFTR gene, which stands for cystic fibrosis transmembrane conductance regulator. The CFTR gene produces a protein that helps management the motion of salt and water out and in of cells. When this gene is mutated, it leads to the irregular manufacturing of thick and sticky mucus, which might trigger problem respiration, digestive issues, and different well being issues. Research have discovered that there are greater than 1,900 identified mutations of the CFTR gene that may trigger cystic fibrosis. The commonest mutation is the deletion of three nucleotides, often called ?F508 or the F508del mutation. This mutation is present in round two-thirds of all cystic fibrosis instances, and is brought on by a single gene mutation (Kumar & Reza, 2020). Different mutations have been recognized, and a few are extra frequent in sure populations than others. For instance, the G542X mutation is extra frequent in individuals of French-Canadian descent (Kumar & Reza, 2020).

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