Direct detection of a missense mutation causing severe hemophilia A by PCR amplification and fluorescence scanning.
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.
Marchetti
G
G
Centro di Studi Biochimici delle Patologie del Genoma Umano, Università di Ferrara, Italy.
Gemmati
D
D
Patracchini
P
P
Volinia
S
S
Castagnoli
A
A
Tosi
B
B
Capelli
M
M
Bernardi
F
F
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