Abstract

The objective of the current proposal is to clone and sequence the human Factor IX genes from both normal individuals and individuals suffering from hemophilia B in order to define the molecular mutations in hemophilia B. Cloning will be accomplished by using lambda vectors. Nucleotide sequenced will be determined by the Maxam-Gilbert method and analysed by various computer programs. The restriction endonuclease polymorphisms at the Factor IX gene locus will be analysed. This analysis will provide information on the mutations in hemophilia B. These studies will make the Factor IX genes available. The availability of both normal and defective genes will aid in prenatal and antenatal diagnosis of hemophilia B and also aid in the isolation of genes of related disorders.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Heart, Lung, and Blood Institute (NHLBI)
Type
Research Project (R01)
Project #
5R01HL031458-03
Application #
3342581
Study Section
Hematology Subcommittee 2 (HEM)
Project Start
1984-07-01
Project End
1988-03-01
Budget Start
1986-07-01
Budget End
1988-03-01
Support Year
3
Fiscal Year
1986
Total Cost
Indirect Cost

  Institution

Name
University of Illinois at Chicago
Department
Type
Overall Medical
DUNS #
121911077
City
Chicago
State
IL
Country
United States
Zip Code
60612

  Publications

Gardner, R V; McKinnon, E; Astle, C M (2001) Analysis of the stem cell sparing properties of cyclophosphamide. Eur J Haematol 67:14-22
Kaul, R K; Hildebrand, B; Roberts, S et al. (1986) Isolation and characterization of human blood-coagulation factor X cDNA. Gene 41:311-4
Krishnan, G; Kaul, R K; Jagadeeswaran, P (1986) DNA sequence analysis: a procedure to find homologies among many sequences. Nucleic Acids Res 14:543-50