Direct detection of a missense mutation causing severe hemophilia A by PCR amplification and fluorescence scanning

Hematol Pathol. 1990;4(4):185-8.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • DNA Mutational Analysis
  • Genetic Carrier Screening / methods*
  • Hemophilia A / genetics*
  • Humans
  • Molecular Sequence Data
  • Pedigree
  • Polymerase Chain Reaction
  • Spectrometry, Fluorescence