Hussein Al-Kindy, Allal Ouhtit, Qasim Al-Salmi, Muna Al-Bimani, Mariam Al-Nabhani and Ishita Gupta
Introduction: Cystic fibrosis (CF) is the most common lethal autosomal recessive disorder among Caucasians (1: 3,000). In CF, the CFTR gene is frequently mutated, with ΔF508del being the largely common mutation in Caucasians. Our preliminary pilot study in Omani population revealed a CF prevalence of 1:2,738.
Objective: The objective of the present study was to determine the most common CFTR mutations in the Omani patients to establish a proper molecular genetics diagnostic basis of CF in Oman. Methods: Blood Genomic DNA samples from Omani patients were examined by PCR and sequencing analyses for the entire coding sequence of the CFTR gene were performed.
Results: The innovative aspect of this study was the identification of a novel CF-causing mutation, L578delTA. Furthermore, in contrast to the west, p.S549R appears to be the most common mutation in Oman (65.2% for S549R and 13% for ΔF508).
Conclusion: The mutation spectrum of CF in Oman revealed six CF-causing mutations, p.S549R, ΔF508, 3120+1G>A, L578delTA, p.A357T and 3849+10kbC->T. These findings will ultimately pave the way towards the development of molecular genetic tests in Oman to confirm the diagnosis of CF and serve the patient care and management.PDF
Share this article
Journal of Molecular Biomarkers & Diagnosis received 1605 citations as per Google Scholar report