Nullisomic deletion of the mcf.2 transforming gene in two haemophilia B patients

EMBO J. 1988 Sep;7(9):2795-9. doi: 10.1002/j.1460-2075.1988.tb03134.x.

Abstract

The mcf.2 transforming gene sequence has been located to the region between 29 and 61 kb 3' of the factor IX gene. Two unrelated haemophilia B patients who raise antibodies to infused factor IX ('inhibitors') have deletions in excess of 273 kb encompassing the factor IX and mcf.2 genes and a CG-rich island. We believe these patients show the first nullisomic deletion of a transforming gene to be reported. No clinical condition can be attributed to the loss of the mcf.2 gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blotting, Southern
  • Chromosome Deletion*
  • Cloning, Molecular
  • DNA / analysis
  • DNA / genetics
  • DNA Probes
  • DNA Restriction Enzymes
  • Factor IX / genetics
  • Hemophilia B / genetics*
  • Humans
  • Nucleic Acid Hybridization
  • Oncogenes*
  • Restriction Mapping

Substances

  • DNA Probes
  • Factor IX
  • DNA
  • DNA Restriction Enzymes