gene have a clinical phenotype representative of pancreatic disease, severe pulmonary disease, gastrointestinal problems, and infertility (in men) or, sometimes, fertility problems (in women).
Other patients have a partial loss of the gene, so their phenotype may be less severe (Table 1 Gene defects are also classified in 4 or 5 categories depending on the production and function of the gene.
the gene associated with cystic fibrosis, encodes the protein cystic fibrosis transmembrane conductance regulator (also abbreviated CFTR, but not italicized).
The gene was identified in 1989 and is found at 7q31.2, the long arm (q) of chromosome 7 at position 31.2.
This condition leads to expansion of alveoli, where air trapping occurs and, over time, causes the barrel-shaped chest that is also common in patients with emphysema.
Destruction of the pulmonary parenchyma leads to increased pulmonary arterial pressure that, in turn, causes right-sided heart failure or cor pulmonale.
According to estimates, approximately 7 to 10 million cystic fibrosis carriers exist in the United States who are totally unaware that they carry a mutated A white American couple with no family history of cystic fibrosis has a 1 in 2500 chance of having a child with cystic fibrosis.