Sentences with phrase «cf gene mutation»

Not exact matches

There are a number of different mutations in the CF gene but one, known as ▵ F508, accounts for 70 per cent of all cases.

CF can arise from more than 2000 mutations in one gene, which cripple the ion channels that move salt and water through cell membranes.

About 1 in 25 people in white populations carry one normal copy of the gene and one mutated copy, and 70 per cent of all CF carriers in the northern European group carry the same single mutation in the gene.

(Of those with CF, some 50 percent carry two copies of the gene with the Delta F508 mutation, and another 40 percent carry one copy; those with just one copy of Delta F508 carry a second bad copy of the CF gene, with an alternate mutation that must be fixed as well.)

Though every CF patient carries mutations in both copies of the same gene — coding for a protein called cystic fibrosis transmembrane conductance regulator or CFTR — symptoms can vary widely from patient to patient.