title: 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.
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.
authors.affiliation: Istituto di Biologia e Genetica, Universitá di Verona Italy.
authors.forename: C
authors.initials: C
authors.lastname: Marigo
authors.forename: C
authors.initials: C
authors.lastname: Bombieri
authors.forename: L
authors.initials: L
authors.lastname: Bisceglia
authors.forename: L
authors.initials: L
authors.lastname: Zelante
authors.forename: P
authors.initials: P
authors.lastname: Gasparini
authors.forename: P F
authors.initials: PF
authors.lastname: Pignatti
mesh_terms: D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001483:Base Sequence; D018118:Chloride Channels / Q000235:genetics; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D017931:DNA Primers; D005091:Exons; D006720:Homozygote; D006801:Humans; D007558:Italy; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction
chemical_list: C505032:CFTR protein, human; D018118:Chloride Channels; D017931:DNA Primers; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator