Isolation and characterization of human factor IX cDNA: identification of Taq I polymorphism and regional assignment.
Article Details
- CitationCopy to clipboard
Jagadeeswaran P, Lavelle DE, Kaul R, Mohandas T, Warren ST
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.
- PubMed ID
- 6089357 [ View in PubMed]
- Abstract
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.