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Middle East African Journal of Ophthalmology Middle East African Journal of Ophthalmology
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Year : 2019  |  Volume : 26  |  Issue : 4  |  Page : 203-209

Investigation of CYP1B1 gene involvement in primary congenital glaucoma in Iraqi children

1 Department of Pharmaceutical Chemistry, College of Pharmacy, University of Kerbala, Kerbala, Iraq
2 Department of Chemistry, College of Science, Mustansiriyah University, Baghdad, Iraq
3 Department of Glaucoma, Ibn Al-Haitham Teaching Eye Hospital, Baghdad, Iraq
4 Department of Biology, College of Science, University of Anbar, Anbar, Iraq

Correspondence Address:
Dr. Suzanne Jubair
Department of Pharmaceutical Chemistry, College of Pharmacy, University of Kerbala, Kerbala
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/meajo.MEAJO_116_19

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PURPOSE: Primary congenital glaucoma (PCG) is a severe type of glaucoma that occurs early in life. PCG is usually inherited in an autosomal recessive pattern. Cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) gene is reported to be PCG-related gene. It codes for the CYP1B1 enzyme which is considered as phase I xenobiotic-metabolizing enzyme and its function is related to the eye oxidative homeostasis and correspondingly to the normal development of the eye. This is the first genetic study in Iraq that investigates the CYP1B1 polymorphisms behind the PCG disease. METHODS: Genomic DNA was extracted from the whole blood of 100 unrelated Iraqi PCG patients and 100 healthy children, all of them were aged between 1 month and 3 years. All the coding sequence of CYP1B1 gene was amplified using polymerase chain reaction; restriction fragment length polymorphism was used to follow G61E and E229K mutations. Direct sequencing was performed to screen for other mutations. RESULTS: CYP1B1 mutations were identified in 78 (78%) of the patients. We detected a total of eight mutations: Four missense mutations (c.182G>A, c.685G>A, g.6813G>A, and g.6705G>A), one silence mutation (D449D) and three insertions (g.10068ins10069, g.10138ins10139, and g.10191ins10192). Five mutations (g.6813G>A, g.6705G>A, g.10068ins10069, g.10138ins10139, and g.10191ins10192) are novel. G61E is the only mutation that was detected in patients merely. CONCLUSIONS: CYP1B1 mutation (G61E) is considered as PCG-related allele in the Iraqi population.

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