Detection of novel CFTR mutations in Taiwanese cystic fibrosis patients

J Formos Med Assoc. 2003 May;102(5):287-91.


Background and purpose: 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.

MeSH terms

  • Child
  • Cystic Fibrosis / epidemiology
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Electrophoresis, Agar Gel
  • Female
  • Humans
  • Infant
  • Male
  • Mutation*
  • Taiwan / epidemiology


  • CFTR protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator