Journal of Genetic Disorders & Genetic Reports ISSN: 2327-5790

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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. [email protected]
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.

Keywords: CFTR gene; Mutation; Algerian population; Analysis in Silico

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