title: Detection of novel CFTR mutations in Taiwanese cystic fibrosis patients.
abstract: OBJECTIVE
  Cystic fibrosis (CF) in Asian populations is very rare. We performed molecular genetic analysis in 2 Taiwanese CF patients for detection of cystic fibrosis transmembrane conductance regulator (CFTR) mutations.
  
  
  METHODS
  Temporal temperature gradient gel electrophoresis (TTGE) was used for mutation detection, and direct sequencing was used for identification of mutations.
  
  
  RESULTS
  In one patient, 2 novel mutations, E7X and 989-992insA, were identified and the carrier status of his parents was confirmed. In the other patient, 3 mutations, S895N, 2215insG, and 1898+5G>T, were found. The 2215insG and S895N were found cis in the same chromosome. These splice site, frameshift, and nonsense mutations produce severely truncated CFTR polypeptides which lack a transmembrane domain, nucleotide binding folds, and the regulatory region, and are predicted to be null in CFTR function.
  
  
  CONCLUSIONS
  These cases underscore the importance of comprehensive mutation analysis of Taiwanese CF patients. Definitive molecular findings can confirm the clinical diagnosis and facilitate patient management, carrier testing, and genetic counseling. Furthermore, there is an urgent need to understand the mutation spectrum and the clinical features of the CFTR gene in Asian patients in order that a mutation panel can be established for effective screening of CF chromosomes.
authors.affiliation: Institute for Molecular and Human Genetics, Georgetown University Medical Center, P.O Box 571477, Washington, DC, USA.
authors.forename: Ozgül M
authors.initials: OM
authors.lastname: Alper
authors.forename: San-Ging
authors.initials: SG
authors.lastname: Shu
authors.forename: Mei-Hui
authors.initials: MH
authors.lastname: Lee
authors.forename: Bao-Tyan
authors.initials: BT
authors.lastname: Wang
authors.forename: Shin-Yu
authors.initials: SY
authors.lastname: Lo
authors.forename: Keh-Liang
authors.initials: KL
authors.lastname: Lin
authors.forename: Ya-Lan
authors.initials: YL
authors.lastname: Chiu
authors.forename: Lee-Jun C
authors.initials: LJ
authors.lastname: Wong
mesh_terms: D002648:Child; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004587:Electrophoresis, Agar Gel; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D013624:Taiwan / Q000453:epidemiology
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator