The role of sequence variations in the lumican (LUM) gene in high myopia

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The role of sequence variations in the lumican (LUM) gene in high myopia


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
Genetic polymorphisms
Polymerase chain reaction
Department: Dept. of Health Technology and Informatics
Pages: ix, 64 leaves : ill. (some col.) ; 30 cm.
InnoPac Record:
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.

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