Patent ID: 6207394
Filing Date: 2001-03-27
Classification: C12N,C12Q

Abstract:
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; anda 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.