Isolation and characterization of human factor IX cDNA: identification of Taq I polymorphism and regional assignment

Somat Cell Mol Genet. 1984 Sep;10(5):465-73. doi: 10.1007/BF01534851.


Hemophilia B or Christmas disease is an X-linked condition caused by absent or reduced levels of functional coagulation factor IX. Based upon the peptide sequence of bovine factor IX, we synthesized a 17-base pair oligonucleotide probe to screen a human liver cDNA library. A recombinant clone was identified with a 917-nucleotide insert whose sequence corresponds to 70% of the coding region of human factor IX. This factor IX cDNA was used to probe restriction endonuclease digested human DNA to identify a Taq I polymorphism associated with the genomic factor IX gene as well as to verify that there is a single copy of this gene per haploid genome. The factor IX cDNA was also used to map the locus for factor IX to a region from Xq26 to Xqter. The cloning of human factor IX cDNA and identification of a Taq I polymorphism and its regional localization will provide a means to study the molecular genetics of hemophilia B and permit linkage analysis with nearby loci.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cell Line
  • Cloning, Molecular
  • DNA / isolation & purification*
  • DNA Restriction Enzymes
  • Factor IX / genetics*
  • Genes*
  • Humans
  • Hypoxanthine Phosphoribosyltransferase / genetics
  • L Cells / enzymology
  • Leukemia, Lymphoid
  • Mice
  • Nucleic Acid Hybridization
  • Polymorphism, Genetic*


  • Factor IX
  • DNA
  • Hypoxanthine Phosphoribosyltransferase
  • DNA Restriction Enzymes