| Author: | Poon, Suet-ching |
| Title: | The role of sequence variations in the lumican (LUM) gene in high myopia |
| Degree: | M.Sc. |
| Year: | 2009 |
| Subject: | Hong Kong Polytechnic University -- Dissertations Myopia -- Genetic aspects Nucleotides Genetic polymorphisms Polymerase chain reaction |
| Department: | Department of Health Technology and Informatics |
| Pages: | ix, 64 leaves : ill. (some col.) ; 30 cm. |
| Language: | English |
| Abstract: | Myopia is an epidemic disease and people suffering from myopia cannot see distant objects clearly. It is a complex trait that both genetic and environmental factors contribute to the disease state. The estimated number of persons affected will reach 2.5 billion by the year 2020. The development of myopia does not confine to a particular race or population and all ages are affected. However, studies have shown that myopia prevalence rate is especially high in Southeast Asian countries when compared to those reported in western countries, with Chinese being the most affected. Visual impairment and eventual vision loss are possible. Different genes have been studied and genetic association has been established with some of the genes chosen. In this project, mutation analysis of the common variants of the LUM gene was performed in Chinese individuals with high myopia. The selected case subjects had their dioptre power greater than -8.00. Four tagging single nucleotide polymorphisms (SNPs) were chosen using the information obtained from the HapMap project. Four pairs of primers were designed and used to amplify the 2 SNPs located in the promoter region, 1 SNP located in exon 1 region and 1 SNP located in the intron 1 region of the LUM gene with polymerase chain reaction. The purpose was to genotype the common SNPs that are possibly related to high myopia in all subjects. The second part of this project is to look for rare SNP(s) that is located in the exons and their flanking intron sequences of the LUM gene. Exon 2 was divided into 4 fragments and the area involved was the exon itself and the flanking region. Four pairs of primers were designed to amplify the four fragments. The purpose was to look for rare variants that may be associated with high myopia. Association was drawn between the cases and controls if there is evidence showing association of a particular SNP in the LUM gene with high myopia. Our results indicate no association between the development of high myopia and the polymorphisms of the four tagged SNPs. No statistically significant differences could be drawn between control and case genotype and allele frequencies for the four SNPs rs3759222, rs3759223, rs3741834 and rs10859110. The contradictory finding with previous studies makes the lumican gene, especially the SNP rs3759223 worth for further exploration of its relationship with high myopia. |
| Rights: | All rights reserved |
| Access: | restricted access |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| b23559457.pdf | For All Users (off-campus access for PolyU Staff & Students only) | 1.07 MB | Adobe PDF | View/Open |
Copyright Undertaking
As a bona fide Library user, I declare that:
- I will abide by the rules and legal ordinances governing copyright regarding the use of the Database.
- I will use the Database for the purpose of my research or private study only and not for circulation or further reproduction or any other purpose.
- I agree to indemnify and hold the University harmless from and against any loss, damage, cost, liability or expenses arising from copyright infringement or unauthorized usage.
By downloading any item(s) listed above, you acknowledge that you have read and understood the copyright undertaking as stated above, and agree to be bound by all of its terms.
Please use this identifier to cite or link to this item:
https://theses.lib.polyu.edu.hk/handle/200/5827