Characterization of genetic defects of hemophilia A in mainland China

Genet Anal. 1999 Dec 15;15(6):205-7. doi: 10.1016/s1050-3862(99)00005-4.

Abstract

Southern blotting, PCR, DGGE and DNA sequencing were used to study gene mutations in 52 unrelated Chinese Hemophilia A patients. 18 out of 34 severe cases had intron 22 inversions, 13 had small gene lesions, of which five are novel.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • China
  • Chromosome Inversion
  • DNA / analysis*
  • Electrophoresis, Polyacrylamide Gel
  • Factor VIII / genetics
  • Hemophilia A / genetics*
  • Humans
  • Introns
  • Point Mutation
  • Polymerase Chain Reaction

Substances

  • Factor VIII
  • DNA