Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients

C. Férec, G. Novelli, C. Verlingue, I. Quéré, B. Dallapiccola, M. P. Audrézet, B. Mercier

Research output: Contribution to journalArticle

Abstract

The spectrum of cystic fibrosis (CF) mutations has been determined in many populations of different ethnic and geographic origins. However, in the south of Europe, the commonest mutation,ΔF508, accounts for only about 50% of CF chromosomes, while identification of most of the other mutant alleles has not been achieved. In an ongoing effort to identify these alleles, we have scanned the entire coding sequence of the CF gene using a GC clamp denaturing gradient gel electrophoresis assay in a sample of 57 chromosomes from patients of Italian origin. We have identified six novel mutations (C276X, H139R, R117L, S42F, A1006E and 3121-2A→T). Each has only been found once in this sample of CF patients.

Original languageEnglish
Pages (from-to)135-137
Number of pages3
JournalMolecular and Cellular Probes
Volume9
Issue number2
DOIs
Publication statusPublished - 1995

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Keywords

  • CFTR
  • cystic fibrosis
  • rare mutations
  • screening

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology

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