Screening for mutations in haemophilia A patients by multiplex PCR-SSCP, Southern blotting and RNA analysis: the detection of a genetic abnormality in the factor VIII gene in 30 out of 35 patients.

Abstract excerpt

The molecular characterization of mutations in haemophilia A patients in this study was carried out by PCR-SSCP, Southern blotting, and reverse transcribed-PCR. A multiplex PCR in which four to eight exons were co-amplified was developed to reduce the time needed for screening the coding region of the factor VIII gene. PCR-SSCP was used to screen for small molecular defects, and reverse transcriptase PCR combined...

Topics

• Base Sequence
• Blotting, Southern
• DNA Mutational Analysis
• Factor VIII
• Hemophilia A
• Humans
• Molecular Sequence Data
• Mutation
• Polymerase Chain Reaction
• Polymorphism, Single-Stranded Conformational