Gene deletion in an Italian haemophilia B subject

J Med Genet. 1985 Aug;22(4):305-7. doi: 10.1136/jmg.22.4.305.

Abstract

DNA from 20 Italian haemophilia B patients was analysed by the Southern blotting technique and hybridisation to a factor IX cDNA probe. A large deletion of factor IX gene was detected in one patient with antibodies to the infused factor; the EcoRI pattern of the other 19 subjects examined was normal.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Deletion
  • Factor IX / genetics*
  • Hemophilia A / genetics*
  • Humans
  • Italy / ethnology
  • Male
  • Nucleic Acid Hybridization
  • Plasmids

Substances

  • Factor IX