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Please note: While some information will still be current in a year, other information may already be out of date in three months time. If you are in any doubt, please feel free to ask.
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
