Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients.

ABSTRACT:

Purpose

Mutations in Cytochrome P450 (CYP1B1) are a predominant cause of congenital glaucoma. This study was planned with the aim to identify the mutation profile of CYP1B1 in North Indian primary congenital glaucoma (PCG) patients.

Methods

After ethical clearance, 50 congenital glaucoma patients and 50 ethnically matched controls were recruited in this study. Genomic DNA was isolated from the blood and trabecular meshwork, and CYP1B1 was screened for the six most prevalent mutations (termination at 223 [Ter@223], Gly61Glu, Pro193Leu, Glu229Lys, Arg368His, and Arg390Cys) by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). DNA sequencing was done to identify other mutations and for confirmation of RFLP positive samples.

Results

On PCR-RFLP

SUBMITTER: Tanwar M 

PROVIDER: S-EPMC2697458 | biostudies-literature | 2009 Jun

REPOSITORIES: biostudies-literature