title: Identification of six novel mutations in the CFTR gene of patients from Bulgaria by screening the twenty seven exons and exon/intron boundaries using DGGE and direct DNA sequencing.
abstract: The CFTR gene, in which more than 300 mutations have been described, displays a spectrum of mutations which varies according to ethnic and geographic origin of patients. In this paper we report an exhaustive study of the 27 exons and exon/intron boundaries of a sample of 35 CF patients from Bulgaria which is situated in the south east of Europe. We have used denaturing gradient gel electrophoresis assay followed by DNA sequencing and we report the identification of six previously undescribed CFTR alleles.
authors.affiliation: Laboratory of Molecular Pathology, University Obstetrics and Gynaecology Hospital, Sofia, Bulgaria.
authors.forename: A
authors.initials: A
authors.lastname: Savov
authors.forename: B
authors.initials: B
authors.lastname: Mercier
authors.forename: L
authors.initials: L
authors.lastname: Kalaydjieva
authors.forename: C
authors.initials: C
authors.lastname: Férec
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002031:Bulgaria; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004276:DNA, Satellite / Q000235:genetics; D005091:Exons; D014644:Genetic Variation; D006801:Humans; D007438:Introns; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012091:Repetitive Sequences, Nucleic Acid; D015183:Restriction Mapping; D017384:Sequence Deletion
chemical_list: C505032:CFTR protein, human; D004276:DNA, Satellite; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator