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Cystic fibrosis (CF) as one of the most common genetic diseases.
3. Cystic fibrosis (CF) as one of the most common genetic diseases.
...This is an inherited disease, it affects both children and adults. It occurs approximately in one of 3.300 births. The average lifespan for people with this disease is about 30 years. The researches conducted by Cystic Fibrosis Foundation show that there are:"about 30.000 Americans, 3.000 Canadians, and 20.000 Europeans, who have CF.1 out of 20 Americans is a carrier of the CF gene and 12 million of them do not know about it." (Ramsey BW, Farrell PM, Pencharz PB. Nutritional assessment and management in cystic fibrosis: a consensus report. 1992; 55:108-116). A person can be just a carrier without symptoms, but when her/his child is born he is either a carrier or a sick person. About 500 genetic mutations are associated with this disease, most of them are delta F 508, which are the most common for CF mutation. Delta F 508 mutation is in its way associated with a single haplotype "B". The gene of CF was identified in 1989. Since that time a lot of researches were conducted in order to get more information about it. "The biochemical abnormality in CF results from mutation in a gene that produces a protein responsible for the movement through the cell membranes of chloride ions (a component of sodium chloride ions, or common table salt). The protein is called CFTR-cystic fibrosis transmembrane regulator." (Kahn Tz, Wagener JS, Bost T, et. al. Early pulmonary inflammation in infants with cystic fibrosis. 1995;151:1075-1082)....