title: Detection of F508del mutation in cystic fibrosis transmembrane conductance regulator gene mutation among Malays.
abstract: BACKGROUND
  Cystic fibrosis (CF) is one of the common genetic disorders in the western world. It has been reported to be very rare in Asian populations. According to the Cystic Fibrosis Genetic Analysis Consortium, more than 1,000 mutations of the CF gene have been identified. The CF gene, named the cystic fibrosis transmembrane conductance regulator (CFTR), is located on chromosome 7 and composed of 27 exons. This study aims to detect possible CFTR gene mutations in Malays.
  
  
  METHODS
  We analysed 50 blood samples from healthy Malays with no symptoms of CF. DNA was extracted from blood using commercially available extraction kits (Eppendorf, Germany). Identification of CFTR gene mutation was performed using the CF OLA (Oligonucleotide Ligation Assay) kit (Applied Biosystems, USA). The PCR-ligation products were electrophoresed on eight percent sequagel using an ABI PRISM 377 genetic analyser (Applied Biosystems, USA). Electrophoresis data was analysed using the Genotyper software and a report of the CF genotype for all loci tested was created using the CF Genotyper Template software. Out of 50, one sample (two percent) was detected to have the F508del mutation (3bp deletion at exon 10), which is one of the most common CFTR gene mutations in Caucasians.
  
  
  RESULTS
  The F508del mutation allele was detected in one subject. This indicates that she was a CF carrier.
  
  
  CONCLUSIONS
  We report the finding of a carrier of the F508del mutation of the CFTR gene in the Malay population. Our finding revealed that CF could also affect the Malay population. Larger studies are necessary to determine the exact gene frequency of this population.
authors.affiliation: Department of Pediatrics, School of Medical Sciences and Human Genome Centre, Universiti Sains Malaysia, Kota Bharu, Malaysia, and Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Glasgow, UK. zilfalil@kb.usm.my
authors.forename: B A
authors.initials: BA
authors.lastname: Zilfalil
authors.forename: S
authors.initials: S
authors.lastname: Sarina
authors.forename: A T
authors.initials: AT
authors.lastname: Liza-Sharmini
authors.forename: N J
authors.initials: NJ
authors.lastname: Oldfield
authors.forename: S A
authors.initials: SA
authors.lastname: Stenhouse
mesh_terms: D044466:Asian People / Q000235:genetics*; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008296:Malaysia; D009154:Mutation
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator