Mahmoud, Hany and Hashim, Marwa S. (2020) Genetic Diagnosis of Glaucoma. Ophthalmology Research: An International Journal, 13 (1). pp. 25-29. ISSN 2321-7227
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Abstract
Purpose: Glaucoma, the most prevalent cause of irreversible blindness across the world, is progressive optic nerve degeneration and affection (neuropathy) caused by a mixture of both genetic and environmental factors [1]. The extracellular matrix (ECM) structure of the trabecular Meshwork TM has a major role in intraocular pressure IOP control. Transforming growth factor beta (TGF-β) is a growth factor that plays major roles in cellular functions, including encouraging extracellular matrix synthesis and vascular angiogenesis. TGFβ2 treatment of TM cells alters ECM components [8] and induces ECM bonds.
Aim of the Study: To study the relationship between family history and glaucoma according to genotype and genetic polymorphism.
Methods: Blood collection and DNA extraction Genotyping: TGFB2 Rs99196 genotyping was done using TaqMan SNP genotyping Assay (ID C___8853564_10). StepOne real time PCR system (Applied Biosystem, Ca, USA) was used for amplifiction.
Statistical Analysis: The sample size of the study group was calculated using a program at (www.openepi.com/SampleSize/ SSCC.htm).
Results: Important genotype differences frequencies were detected between the positive family history and negative family history groups for the codominant, dominant, recessive and overdominant inheritance models.
Conclusion: This study recommends that other polymorphisms of genes associated with glaucoma and the analysis of these gene products and their relationship with disease risk factors should be more studied.
Item Type: | Article |
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Subjects: | Opene Prints > Medical Science |
Depositing User: | Managing Editor |
Date Deposited: | 14 Mar 2023 09:14 |
Last Modified: | 01 Feb 2024 04:11 |
URI: | http://geographical.go2journals.com/id/eprint/1598 |