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Abstract #82881 Published in IGR 20-4

Investigation of Gene Involvement in Primary Congenital Glaucoma in Iraqi Children

Jubair S; N Al-Rubae'i SH; M Al-Sharifi AN; Jabbar Suleiman AA
Middle East African Journal of Ophthalmology 2019; 26: 203-209


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 () 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 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 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: Array CONCLUSIONS: Array

Department of Pharmaceutical Chemistry, College of Pharmacy, University of Kerbala, Kerbala, Iraq.

Full article

Classification:

9.1.1 Congenital glaucoma, Buphthalmos (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)



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