Dabboubi Rym Author
Subjects of specialization
Affiliation
Tunisian population, CFTR gene;, Cystic fibrosis; , IVS8 TGmTn polymorphism; , F508del mutation;
Biochemistry Laboratory, Children
Dabboubi Rym Biochemistry Laboratory, Children’s Hospital Bechir Hamza, Research laboratory LR00SP03Bab Saadoun Square, Tunis, Tunisia |
Research Article Subscription
Author(s): Sahli Chaima, Hadj Fredj Sondess, Dabboubi Rym, Bousseta Khedija, Mehrzi Ahmed, Messaoud Taieb
Background: Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians, caused by mutation in cystic fibrosis transmembrane conductance regulator (CFTR). The analysis of some extra and intragenic markers within or closely linked to CFTR gene is useful as a molecular method in clinical linkage analysis. Indeed, knowing that the molecular basis of CF is highly heterogeneous in our population is explained in the present study. The goal of the study was to examine the IVS8 TGmTn genotypes in a Tunisian sample of patients with CF disease and normal controls, and to compare the results with the findings from the literature.
Methods: We conducted a case–control... view moreĀ»