Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes

Laura Cremonesi, Maurizio Ferrari, Elena Belloni, Carmelina Magnani, Manuela Seia, Patrizia Ronchetto, Magdy Rady, Maria Pia Russo, Giovanni Romeo, Marcella Devoto

Research output: Contribution to journalArticle

Abstract

The deltaF508 mutation accounts for about 53% of the molecular defects causing cystic fibrosis (CF) in Italy. The numerous additional mutations detected so far are all relatively rare, and about 30% of CF chromosomes carries unknown mutations in our patients. In order to identify the non-deltaF508 mutations causing CF in our population, we performed GC-clamped denaturing gradient gel electrophoresis (DGGE) on 9 exons of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in a sample of 86 Italian CF patients carrying unknown mutations on at least one chromosome. Direct sequencing of 17 samples showing an altered electrophoretic mobility allowed the identification of four new mutations (541deIC, R347H, R352Q, and E585X), five mutations already known (G85E, I148T, G178R, 1078delT, and R347P), and one rare variant (1898 + 3A→G). The strategy based on GC-clamped DGGE represents an efficient and rapid approach for mutation detection for those genetic diseases, such as CF, in which a large number of rare molecular defects has been described.

Original languageEnglish
Pages (from-to)314-319
Number of pages6
JournalHuman Mutation
Volume1
Issue number4
Publication statusPublished - 1992

Keywords

  • Cysic fibrosis
  • DGGE
  • Direct sequencing
  • GC-clamp

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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