title: Direct detection of a missense mutation causing severe hemophilia A by PCR amplification and fluorescence scanning.
abstract: The amplification of Factor VIII gene-specific sequences, obtained by polymerase chain reaction, was used for hemophilia A carrier detection. Exon 24 sequences were employed in the carrier status determination of a missense mutation causing severe hemophilia A in two unrelated patients. After agarose gel electrophoresis, the digested DNA was subjected to quantitative determination of fluorescence. This technique significantly improves the digest analysis.
authors.affiliation: Centro di Studi Biochimici delle Patologie del Genoma Umano, Università di Ferrara, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Marchetti
authors.forename: D
authors.initials: D
authors.lastname: Gemmati
authors.forename: P
authors.initials: P
authors.lastname: Patracchini
authors.forename: S
authors.initials: S
authors.lastname: Volinia
authors.forename: A
authors.initials: A
authors.lastname: Castagnoli
authors.forename: B
authors.initials: B
authors.lastname: Tosi
authors.forename: M
authors.initials: M
authors.lastname: Capelli
authors.forename: F
authors.initials: F
authors.lastname: Bernardi
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D006580:Genetic Carrier Screening / Q000379:methods*; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D013050:Spectrometry, Fluorescence