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Gene

Question
Do people with CF have CF-gene, or does everybody carry a CF-gene and do people with cystic fibrosis have a mutation in the CF-gene?
Answer
Every individual has 2 CFTR genes, 1 CFTR gene is inherited from the father, the other one from the mother. The CFTR gene is necessary to make the CFTR protein that is really a channel through which salts cross the cell membrane. If one has a mutation (read error) in the CFTR gene, then one talks about a mutant CFTR gene or a CF gene. From a mutant CFTR gene a normally functioning salt channel cannot be made. CF patients have a mutation on both the CFTR genes.
In conclusion, every individual has 2 CFTR genes, but only in patients with CF will there be a mutation on both CFTR genes which results in the disease cystic fibrosis.
K. De Boeck, H. Cuppens
16.02.2009