09 September 2002
CFTR gene mutations in patients suffering from acute pancreatitis
Marzena Kostuch, Sławomir Rudzki, Andrzej Semczuk, Lucas KulczyckiMed Sci Monit 2002; 8(9): BR369-372 :: ID: 13266
Abstract
Summary
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: Alleles, Chlorine - metabolism, Cystic Fibrosis - diagnosis, Cystic Fibrosis Transmembrane Conductance Regulator - genetics, Ions, Mutation, Nucleic Acid Hybridization, Pancreatitis - genetics, Pilocarpine - pharmacology, Sweat - metabolism
Editorial
01 March 2024 : Editorial
Editorial: First Regulatory Approvals for CRISPR-Cas9 Therapeutic Gene Editing for Sickle Cell Disease and Transfusion-Dependent β-ThalassemiaDOI: 10.12659/MSM.944204
Med Sci Monit 2024; 30:e944204
In Press
18 Mar 2024 : Clinical Research
Sexual Dysfunction in Women After Tibial Fracture: A Retrospective Comparative StudyMed Sci Monit In Press; DOI: 10.12659/MSM.944136
21 Feb 2024 : Clinical Research
Potential Value of HSP90α in Prognosis of Triple-Negative Breast CancerMed Sci Monit In Press; DOI: 10.12659/MSM.943049
22 Feb 2024 : Review article
Differentiation of Native Vertebral Osteomyelitis: A Comprehensive Review of Imaging Techniques and Future ...Med Sci Monit In Press; DOI: 10.12659/MSM.943168
23 Feb 2024 : Clinical Research
A Study of 60 Patients with Low Back Pain to Compare Outcomes Following Magnetotherapy, Ultrasound, Laser, ...Med Sci Monit In Press; DOI: 10.12659/MSM.943732
Most Viewed Current Articles
16 May 2023 : Clinical Research
Electrophysiological Testing for an Auditory Processing Disorder and Reading Performance in 54 School Stude...DOI :10.12659/MSM.940387
Med Sci Monit 2023; 29:e940387
17 Jan 2024 : Review article
Vaccination Guidelines for Pregnant Women: Addressing COVID-19 and the Omicron VariantDOI :10.12659/MSM.942799
Med Sci Monit 2024; 30:e942799
14 Dec 2022 : Clinical Research
Prevalence and Variability of Allergen-Specific Immunoglobulin E in Patients with Elevated Tryptase LevelsDOI :10.12659/MSM.937990
Med Sci Monit 2022; 28:e937990
01 Jan 2022 : Editorial
Editorial: Current Status of Oral Antiviral Drug Treatments for SARS-CoV-2 Infection in Non-Hospitalized Pa...DOI :10.12659/MSM.935952
Med Sci Monit 2022; 28:e935952