-
Isolation and characterization of human factor IX cDNA: identification of Taq I polymorphism and regional assignment.
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.
PMID: 6089357 [PubMed - indexed for MEDLINE]
-
Cited by 6 PubMed Central articles
-
An integrated approach for identifying and mapping human genes.
Das Gupta R, Morrow B, Marondel I, Parimoo S, Goei VL, Gruen J, Weissman S, Skoultchi A, Kucherlapati R.
Proc Natl Acad Sci U S A. 1993 May 15; 90(10):4364-8.
[Proc Natl Acad Sci U S A. 1993]
-
Evidence for a prevalent dimorphism in the activation peptide of human coagulation factor IX.
McGraw RA, Davis LM, Noyes CM, Lundblad RL, Roberts HR, Graham JB, Stafford DW.
Proc Natl Acad Sci U S A. 1985 May; 82(9):2847-51.
[Proc Natl Acad Sci U S A. 1985]
-
Population genetics of coagulant factor IX: frequencies of two DNA polymorphisms in five ethnic groups.
Lubahn DB, Lord ST, Bosco J, Kirshtein J, Jeffries OJ, Parker N, Levtzow C, Silverman LM, Graham JB.
Am J Hum Genet. 1987 Jun; 40(6):527-36.
[Am J Hum Genet. 1987]
- » See all...