Molecular Biomarkers & Diagnosis

Muna Al-Bimani

Publications

• Research Article
  Novel Mutation in the CFTR Gene of Cystic Fibrosis Patients in Oman
  Author(s): Hussein Al-Kindy, Allal Ouhtit, Qasim Al-Salmi, Muna Al-Bimani, Mariam Al-Nabhani and Ishita GuptaHussein 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.. Read More»
  DOI: 10.4172/2155-9929.1000168

  Abstract PDF