Human carbamyl phosphate synthetase I polymorphism and diagnostic methods related thereto
AssigneeVanderbilt University
InventorsMarshall L. Summar, Brian W. Christman
Life of this patent
Estimating the term…
Abstract
Isolated polynucleotide molecules and peptides encoded by these molecules are used in the analysis of human carbamyl phosphate synthetase I phenotypes, as well as in diagnostic and therapeutic applications, relating to a human carbamyl phosphate synthetase I polymorphism. By analyzing genomic DNA or amplified genomic DNA, or amplified cDNA derived from mRNA, it is possible to type a human carbamyl phosphate synthetase I with regard to the human carbamyl phosphate synthetase I polymorphism, for example, in the context of diagnosing and treating hepatic veno-occlusive disease (HVOD) associated with bone marrow transplants.
Claims24
A method of screening a human subject for susceptibility to sub-optimal urea cycle function resulting in decreased ammonia clearance, decreased arginine production, and/or decreased citrulline production, the method comprising the steps of:
- (a) obtaining a nucleic acid sample from the subject;
- and
- (b) detecting in said sample a polymorphism that results in a N→T substitution at amino acid 1405 of a carbamyl phosphate synthetase I (CPSI) polypeptide, the presence of the polymorphism indicating the susceptibility of the subject to sub-optimal urea cycle function resulting in decreased ammonia clearance, decreased arginine production, and/or decreased citrulline production.
A method of screening for susceptibility to bone marrow transplant toxicity in a human candidate for a bone marrow transplant, the method comprising the steps of:
- (a) obtaining a nucleic acid sample from the candidate;
- and
- (b) detecting in said sample a polymorphism that results in a N→T substitution at amino acid 1405 of a carbamyl phosphate synthetase I (CPSI) polypeptide, the presence of the polymorphism indicating the susceptibility of the candidate to bone marrow transplant toxicity.
Dependencies are inferred from the claim text.