AI Article Synopsis
- The study aimed to identify the frequency and types of mutations in the CFTR gene responsible for cystic fibrosis (CF) in a sample of 68 patients in Tunisia.
- Twelve CFTR mutations were found to account for 90% of the alleles, with F508del being the most common (47.06%), and three novel mutations were also identified.
- The findings indicate that nearly all patients had at least one CFTR mutation, emphasizing the need for thorough genetic screening and counseling programs in Tunisia.
Article Abstract
Aim: To determine the frequency and types of mutations causing cystic fibrosis (CF) in Tunisia.
Methods: We analyzed the complete coding region and flanking intronic sequences of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 68 unrelated patients suffering from the classical form of the disease.
Results: Twelve different CFTR mutations accounted for 90% (123/136) of CF alleles, including F508del (47.06%), E1104X (16.18%), N1303K (6.62%), 711 + 1T > G (5.88%), W1282X (4.41%), G542X (3.67%), R1158X (1.47%), 4016insT (0.74%), and R785X (0.74%). Three novel mutations were detected in this study: I1203V (1.47%), 1811 + 5A > G (0.74%), and 4268 + 2T > G (1.47%). Fifty patients (74%) were homozygous, among which 28 (41.17%) for F508del and 10 (14.7%) for E1104X.
Conclusions: Ninety-seven percent of patients were found with at least one CFTR mutation. This study contributes to a better knowledge on CF-causing mutations in different regions in Tunisia and demonstrates that a complete scanning of CFTR sequences is necessary to implement efficient programs for CF genetic screening and counseling in this part of North Africa.
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| http://dx.doi.org/10.1089/gtmb.2009.0028 | DOI Listing |
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