Abstract
MUTATIONS OF THE HUMAN CYP1B1 GENE IN PATIENTS WITH PRIMARY CHILDHOOD GLAUCOMA'S IN NIGERIA.

*Kooffreh Mary, Duke Roseline, Umoyen Anthony John and Ozoje Michael

ABSTRACT

Purpose: One of the primary molecular defect underlying the majority of Childhood Glaucoma cases has been identified as mutations in the cytochrome P4501B1 (CYP1B1) gene. There are no documented molecular studies on the genetic basis of chlidhood glaucoma in our population. Our aim is to identify any mutations present in exon 3 of the CYP1B1 gene which has been implicated in the pathogenesis of congenital glaucoma in diagnosed cases of primary childhood glaucoma and their families in other populations. Methods: This study included 11 children with primary childhood glaucoma, 30 controls from whole genomic DNA was extracted and PCRs were carried out. The amplicons were sequenced for mutations in exon 3. The nucleotide sequences of the CYP1B1 candidate gene on exon 3 and the exon-intron boundary were decoded from the chromatograms (bidirectional sequences) using Bioedit software and aligned manually. Multiple sequence alignment was determined using CLUSTAL W. Statistical analyses were performed using SPSS version 18 software. Significance was set at P<0.05. Results: The g.291G>C mutation which is a substitution of guanine by cytosine that resulted in an amino acid substitution of glutamine by histidine at position 97((p.Q97H)) was observed in 4(36.36%) out of the 11 patients. Three of these patients had primary congenital glaucoma, only 1 patient had juvenile open angle glaucoma. The following four single nucleotide deletions g.317delG, g.324delG, g.327delG, g.535delG (single deletion of guanine) were observed in 3(27.27%) out of the 11 patients, all three cases were all males with primary congenital glaucoma. Conclusions: This results form baseline information for further molecular studies among Nigerian patients with Primary childhood glaucoma.

Keywords: Primary childhood glaucoma, children, CYP1B1 gene, Calabar.


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