Diagnosis of primary congenital glaucoma

Details Diagnosis of primary congenital glaucoma Diagnosis of primary congenital glaucoma

1999-05-07

2000-10-03

Fredman, Jeffrey

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435 912, 536 231, 536 235, C07H 2104, C12Q 168, C12P 1934

Patent

active

061271284

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.

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