Diagnosis of primary congenital glaucoma
AssigneeUniversity of Connecticut
InventorMansoor Sarfarazi
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Abstract
Methods of diagnosing primary congenital glaucoma, by detecting particular mutations in a human cytochrome P4501B1 (CYP1B1) gene, are disclosed. Methods include hybridization analysis, such as Southern or Northern analysis, which use hybridization of a mutant nucleic acid probe to the CYP1B1 gene; direct mutation analysis by restriction digest; sequencing of the CYP1B1 gene; hybridization of an allele-specific oligonucleotide with amplified genomic DNA; or identification of the presence of mutant proteins encoded by the CYP1B1 gene.
Claims1
A method of diagnosing primary congenital glaucoma, comprising detecting an alteration in composition of human cytochrome P4501B1 protein, wherein the alteration is selected from the group consisting of:
- a change of amino acid Met1 to Thr;
- a change of amino acid Ala65 to Glu;
- a change of amino acid Tyr81 to Asn;
- a change of amino acid Tyr137 to Asp;
- a change of amino acid Gly238 to Arg;
- a change of amino acid Asp242 to His;
- a change of amino acid Phe261 to Leu;
- a change of amino acid Val356 to Gly;
- a change of amino acid Arg368 to His;
- a change of amino acid Arg390 to Cys;
- a change of amino acid Ser393 to Asn;
- a change of amino acid Pro400 to Ser;
- a change of amino acid Ala443 to Gly;
- a change of amino acid Phe445 to Ile;
- and
- a change of amino acid Ser464 to Pro,
- wherein the presence of an alteration in composition of the human cytochrome P4501B1 protein is indicative of primary congenital glaucoma.
Dependencies are inferred from the claim text.