title: Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia.
abstract: A descriptive study was undertaken to characterize cystic fibrosis transmembrane regulator (CFTR) gene mutations in the Saudi Arabian cystic fibrosis (CF) population in relation to their clinical picture, demographic features and ethnic origin. From October 1992 to September 1997, 70 patients (46 families) diagnosed with CF were screened for CFTR mutations. A total of 12 mutations were identified in 34 families (70% of the CF alleles in the study group). Most of the families were native Saudis, and in 88% of the families the parents were in consanguineous marriages. The most common Saudi mutations were 1548delG and I1234V. There was no significant difference in the clinical picture between patients of different ethnic origins with the same CFTR mutation.
authors.affiliation: Department of Paediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
authors.forename: H
authors.initials: H
authors.lastname: Banjar
mesh_terms: D000328:Adult; D003241:Consanguinity; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011159:Population Surveillance; D012111:Residence Characteristics / Q000706:statistics & numerical data; D015183:Restriction Mapping; D012529:Saudi Arabia / Q000453:epidemiology
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator