Use of a BamHI polymorphism in the factor IX gene for the determination of hemophilia B carrier status

Blood. 1986 May;67(5):1508-11.


A BamHI polymorphism has been identified in the human factor IX gene. This polymorphism, which occurs in approximately 6% of X chromosomes, has been used to determine the carrier status of a female in a family with a history of hemophilia B. This family was uninformative for the previously reported TaqI and Xmnl polymorphisms in the factor IX gene.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Bacterial Proteins*
  • DNA / analysis
  • DNA Restriction Enzymes / metabolism*
  • Deoxyribonuclease BamHI
  • Deoxyribonucleases, Type II Site-Specific*
  • Factor IX / genetics*
  • Female
  • Genetic Carrier Screening*
  • Hemophilia B / genetics*
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Genetic*


  • Bacterial Proteins
  • Factor IX
  • DNA
  • DNA Restriction Enzymes
  • Deoxyribonuclease BamHI
  • endodeoxyribonuclease PaeI
  • BglII endonuclease
  • Deoxyribonucleases, Type II Site-Specific