Patent ID: 6127128
Filing Date: 2000-10-03
Classification: C12N,C12Q

Abstract:
A method of diagnosing primary congenital glaucoma in an individual, comprising detecting a mutation in the human cytochrome P4501B1 gene, wherein the mutation is selected from the group consisting of:a change from ATG to ACG in codon 1;a change from TGG to TGA in codon 57;a change from GCG to GAG in codon 65;a change from TAC to AAC in codon 81;a change from TAC to GAC in codon 137;a change from GGC to CGC in codon 238;a change from GAC to CAC in codon 242;a change from TTC to TTA in codon 261;a change from GTG to GGG in codon 356;a change from CGT to CAT in codon 368;a change from CGC to TGC in codon 390;a change from AGC to AAC in codon 393;a change from CCT to TCT in codon 400;a change from GCT to GGT in codon 443;a change from TTC to ATC in codon 445; anda change from TCA to CCA in codon 464,wherein the presence of the mutation is indicative of primary congenital glaucoma.