Marzena Kostuch, Sławomir Rudzki, Andrzej Semczuk, Lucas Kulczycki
Med Sci Monit 2002; 8(9): BR369-372
Available online: 2002-09-09
Background: The aim of our study was to investigate the frequency of the CFTR gene mutation in a selected group of patients suffering from severe acute pancreatitis.
Material/Methods: DNA isolated from peripheral blood samples from forty-one subjects was analyzed for the eight most common CFTR gene mutations (∆F508, G542X, G551D, R553X, 1717-1(G>A),
W1282X, N1303K, ∆I507) by the reverse-hybridization technique, using INNO-LIPA CF2 test strips. The level of chloride ions in sweat samples was established using the pilocarpine iontophoresis method.
Results: In the study group, none of the patients harbored CFTR gene mutations. In these selected cases, the experiments were repeated twice to ensure the reliability of the results. All of the subjects had a normal level of chloride ions (range 8–38 mmol/l). Comparison with historical carriers revealed no differences between the frequency of carriers of the CFTR gene mutations in the general Polish population (4%) in comparison with the surgical patients with acute pancreatitis (p=0.26; Fisher exact test).
Conclusion: We found no patients with severe acute pancreatitis who had CFTR gene mutations, suggesting that these alterations are not a risk factor for the disease in our population. Further studies
are warranted to evaluate the frequency and role of rare (‘mild’) CFTR gene point mutations in subjects suffering from severe acute pancreatitis.
Keywords: Adult, Alleles, Chlorine - metabolism, Cystic Fibrosis - diagnosis, Cystic Fibrosis Transmembrane Conductance Regulator - genetics, Ions, Mutation, Nucleic Acid Hybridization, Pancreatitis - genetics, Pilocarpine - pharmacology, Sweat - metabolism