Characterisation and use of an intragenic polymorphic marker for detection of carriers of haemophilia B (factor IX deficiency)

Lancet. 1984 Feb 4;1(8371):239-41. doi: 10.1016/s0140-6736(84)90122-3.


DNA from 33 healthy White subjects was analysed with a 2 X 5 kilobase subgenomic DNA probe derived from the gene for coagulation factor IX, containing the exon "d" region of that gene. Intragenic Taq I restriction-fragment length polymorphism was revealed, with allelic frequencies estimated at 0 X 65 and 0 X 35 (SE = 0 X 06), also detectable by a cDNA probe. The genomic DNA probe is technically superior to the cDNA probe and has been used in three families with haemophilia B (factor IX deficiency). The polymorphic marker segregates with the deleterious mutation, allowing the identification or exclusion of carriers. The allelic frequencies of the Taq I polymorphism are virtually ideal. Therefore, such a polymorphism should be helpful both in genetic counselling of approximately 40% of affected families and in prenatal diagnosis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Chromosome Deletion
  • DNA
  • DNA Restriction Enzymes / metabolism
  • Deoxyribonucleases, Type II Site-Specific*
  • Factor IX / genetics*
  • Female
  • Genes
  • Genetic Carrier Screening / methods*
  • Genetic Linkage
  • Genetic Markers*
  • Hemophilia B / diagnosis*
  • Hemophilia B / genetics
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Genetic
  • Pregnancy
  • Prenatal Diagnosis


  • Genetic Markers
  • Factor IX
  • DNA
  • DNA Restriction Enzymes
  • Deoxyribonucleases, Type II Site-Specific
  • TCGA-specific type II deoxyribonucleases