2008 SURI Intern

Year:      Junior
Major:    Biology
School:  West Virginia University,
                Morgantown, WV

Mentor: Sepideh Zareparsi, Ph.D.
Dept:      Ophthalmology

Project Description

Glaucoma is an umbrella term that encompasses a group of optic neuropathies that lead to visual impairment and ultimately blindness. In our lab, the focus of research lies on primary open angle glaucoma (POAG).  POAG is inherited in a complex multifactorial fashion. So far, only 3 genes have been linked to POAG: myocilin, optineurin, and WD repeat domain 36. Even then, only myocilin is currently established as a causative gene, with the roles of optineurin and WD repeat domain 36 still being investigated. The goal of this laboratory is to identify susceptibility genes that may contribute to the development of POAG through association studies.

I will be examining the possibility of an association between two candidate genes and glaucoma. These genes are cystathionine-beta-synthase (CBS) and nitric oxide synthase 3 (NOS3). There is some evidence for involvement of these genes by other groups. Therefore, I will be looking at a single nucleotide polymorphism (SNP) on each gene, and measuring their frequencies in glaucoma patients and in individuals without disease. This allows us to determine whether there is an association between a certain SNP and disease. If we detect an association, then we will expand the study to examine additional SNPs within the gene of interest.

To determine the genotype of an individual, DNA samples are collected from individuals with and without glaucoma, and the selected gene is targeted using DNA primers designed to anneal on either side of the SNP. The polymerase chain-reaction (PCR) is utilized to amplify the target gene, and the PCR product is subjected to restriction analysis. By choosing a restriction enzyme that will cut the different genotypes in different ways, we can ultimately genotype an individual by looking at the size of the DNA fragments that result through gel electrophoresis.

Click here to review the summary report of this project.