title: Simultaneous detection of fourteen Italian cystic fibrosis mutations in seven exons by reverse dot-blot analysis.
abstract: The increasing number of cystic fibrosis (CF) mutations is a great obstacle to the use of DNA procedures in the detection of gene defects. We describe a fast, cheap and non-radioactive procedure, Reverse dot-blot analysis (RDB), for the simultaneous detection of CF mutations in the Italian population. We used this approach to study seven exons of the CF gene for 14 CF gene defects and were able to characterize 222 of 272 CF chromosomes (80%). The cost of the procedure was $25 per sample analysed.
authors.affiliation: I. G. Gaslini-Genova, Osp. V. Cervello-Servizio Talassemia-Palermo.
authors.forename: M
authors.initials: M
authors.lastname: Rady
authors.forename: E
authors.initials: E
authors.lastname: D'Alcamo
authors.forename: M
authors.initials: M
authors.lastname: Seia
authors.forename: L
authors.initials: L
authors.lastname: Iapichino
authors.forename: M
authors.initials: M
authors.lastname: Ferrari
authors.forename: S
authors.initials: S
authors.lastname: Russo
authors.forename: G
authors.initials: G
authors.lastname: Romeo
authors.forename: A
authors.initials: A
authors.lastname: Maggio
mesh_terms: D000483:Alleles; D001483:Base Sequence; D003550:Cystic Fibrosis / Q000235:genetics*; D017931:DNA Primers; D005091:Exons; D006801:Humans; D007558:Italy; D008969:Molecular Sequence Data; D009154:Mutation; D009693:Nucleic Acid Hybridization; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
chemical_list: D017931:DNA Primers