Abstract
Cystic fibrosis (CF) is an autosomal recessive disorder caused by alteration in cystic fibrosis transmembrane conductance regulator (CFTR) gene located on chromosome 7q31.2. CFTR encodes a transmembrane glycoprotein that functions as a chloride channel. Alteration in CFTR protein causes changes in the movement of ions, leading to formation of sweat with high salt content, and viscous mucus that obstructs the normal function of epithelial cells in the affected organs. The incidence of CF in Jordan is estimated to be 1:2560 live births. Previous studies have reported considerable variation in the mutations seen in CF patients in Jordan, which reflects the heterogeneity of phenotypes seen in these patients, as well as novel mutations. The objective of this study is to conduct a wide screen analysis of CF mutations present in the Jordanian population, which is essential to estimate the frequency of the mutations found in this population in order to develop a better understanding of the diagnostic and therapeutic approaches for treating CF. This study will be conducted in Jordan through the hospitals and centers affiliated with the Ministry of Health in association with the scientific research support fund affiliated with the Ministry of Higher Education. For each CF patient participating in the study, clinical data will be collected and a sweat chloride test will be performed in order to confirm diagnosis of CF. In addition, blood samples will be collected and used to conduct a wide screen analysis to detect the mutations present in the CFTR gene using INNO-LIPA CFTR36 assay, which detects 36 putative mutations common in CF patients of Caucasian ethnicity. Finally, sequencing will be performed to detect mutations unidentified by the screening analysis, and covering the flanking intronic sequences of CFTR gene. The projected time line for conducting this study will be approximately 12 months, with the first six months utilized for data and specimen collection and the following six months for conducting the experiments and analyzing the collected data. It is anticipated that in Jordanian CF patients novel mutations will be detected that are different from what was reported previously.