Research Article, J Genet Disor Genet Rep Vol: 5 Issue: 1
Spectrum of CFTR Mutations in the Algerian Population: Molecular and Computational Analysis
Fatima Zohra Sediki1*, Abdelkarim Radoui2, Abdallah Boudjema1, Meriem Abdi1, Faouzia Zemani-Fodil1, Nadhira Saidi-Mehtar1 and Faiza Cabet3 | |
1Laboratoire de Génétique Moléculaire et Cellulaire, Université des Sciences et de la Technologie d’Oran- Mohamed Boudiaf (USTO-MB), Algérie | |
2Service de Pneumologie et Allergologie pédiatriques, Etablissement hospitalier spécialisé (EHS) Canastel, Oran, Algérie | |
3Service d’endocrinologie moléculaire et maladies rares, Hôpital Femme-Mère-Enfant, Bron-Lyon, France | |
Corresponding author : Fatima Zohra Sediki Laboratoire de Génétique Moléculaire et Cellulaire, Université des Sciences et de la Technologie d’Oran-Mohamed Boudiaf (USTO-MB), Algérie Tel: (+213) 550861008 E-mail: sediki. fatima@gmail.com |
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Received: November 12, 2015 Accepted: December 28, 2015 Published: December 31, 2015 | |
Citation: Sediki FZ, Radoui A, Boudjema A, Abdi M, Zemani-Fodil F, et al. (2016) Spectrum of CFTR Mutations in the Algerian Population: Molecular and Computational Analysis. J Genet Disor Genet Rep 5:1. doi:10.4172/2327-5790.1000130 |
Abstract
Little has been reported on the occurrence of cystic fibrosis in Algerian population. In order to contribute to the few existing data we undertook this study. The aim was in first instance to detect genetics alteration in the CFTR gene of 21 CF Algerian patients by sequencing. 14 different mutations were detected one of them
has never been described. Among these mutations the c.680T>G (L227R) which seems to be specific to the Algerian population, it was in silico studied to determine its impact at a molecular level. This is the first study that combined a molecular and computational analysis. These findings will assist in genetic counseling, prenatal diagnosis and future screening of CF in Algeria.