Study of 12 mutations in Turkish cystic fibrosis patients

Hum Hered. 1995 May-Jun;45(3):175-7. doi: 10.1159/000154281.

Abstract

67 unrelated cystic fibrosis (CF) patients were screened for some of the most common mutations of the CFTR gene. This analysis resulted in the identification of 34.6% of all CF alleles. The most common mutation is delta F508 (28.4%). Two other mutations account for a further 6.7% of the alleles (R347H: 3.0%; N1303K: 3.7%). 1677delTA, G542X, G551D, S549N/I, R553X, L558S, R334W, and R297Q were not detected.

MeSH terms

  • Adolescent
  • Alleles
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • DNA Mutational Analysis
  • Exons
  • Humans
  • Membrane Proteins / genetics*
  • Mutation*
  • Polymorphism, Restriction Fragment Length
  • Turkey

Substances

  • CFTR protein, human
  • Membrane Proteins
  • Cystic Fibrosis Transmembrane Conductance Regulator