1. The CF transmembrane conductance regulator (CFTR) gene is mutated, and is located on chromosome 7. CF is inherited recessively.
2. It causes disruption of exocrine function of the pancreas, of the intestinal glands, of the biliary tree and bronchial glands, and of sweat glands. It also can cause infertility in men and women.
3. The delta-F508 allele, if expressed, results in defective uptake of pseudomonas aeruginosa, which can result in susceptibility of patients with CF to chronic P. aeruginosa lung infections.
4. There is an allelic correlation with the severity of the disease. Multiple allelism (different mutations at the same locus) may account for the differing of symptoms between patients with CF.
5. Patients with CF who fall into the category of CF-PI are most likely descendants of a single mutational event at the CF locus, whereas the CF-PS patients resulted from multiple, different mutations.
6. Cirrhosis may be caused by the delta-F508 mutation in CF patients homozygous for the mutation.
7. MBL variant alleles are associated with recurrent infections. If a patient with CF is a carrier of MBL variant alleles, the life expectancy for this patient decreases by 8 years compared with normal homozygotes. |
