Homozygosity for a novel splice site mutation (2790-2 A→G) preceding exon 15 of the CFTR gene in a cystic fibrosis patient of North-East Italian descent

Cristina Marigo, Cristina Bombieri, L. Bisceglia, L. Zelante, P. Gasparini, Pier Franco Pignatti

Research output: Contribution to journalArticlepeer-review

Abstract

We have been screening a cohort of 225 chromosomes from cystic fibrosis patients for mutations in the cystic fibrosis transmembrane regulator gene using a combination of DGGE, RNA-SSCP and DNA sequencing. A novel splice site mutation was detected by multiplex DGGE in a homozygous patient. Restriction-site generating PCR (RG-PCR) analysis demonstrated that both parents carried the same mutation. The molecular haplotype was the same. All the known ancestors came from the same (Veneto) region, and no consanguinity was documented up to the sixth generation.

Original languageEnglish
Pages (from-to)139-141
Number of pages3
JournalMolecular and Cellular Probes
Volume9
Issue number2
DOIs
Publication statusPublished - 1995

Keywords

  • CFTR mutation
  • multiplex DGGE
  • RG-PCR

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology

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