分子バイオマーカーと診断のジャーナル

Novel Mutation in the CFTR Gene of Cystic Fibrosis Patients in Oman

Abstract

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.