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Study on the Single Nucleotide Polymorphisms in Patients with High Myopia Using SnaPshot

Author: LiWenJing
Tutor: KongQingLan
School: Qingdao University
Course: Ophthalmology
Keywords: high myopia single nucleotide polymorphisms association study
CLC: R778.11
Type: Master's thesis
Year: 2011
Downloads: 67
Quote: 0
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Abstract


Objective:To investigate the molecular mechanism of the development of high myopia and provide scientific basis for the prevention and treatment of high myopia by studying single nucleotide polymorphisms in patients with high myopia.Methods:Genome-wide association study was taken for 100 cases of high myopia patients and 80 normal subjects using Illumina 610-Quad BeadChips, and a small number of positive SNP were selected after statistical analysis. Case-control association study was used in the research. SNP genotypes of 506 cases of high myopia patients and 991 normal healthy were detected using SnaPshot method. Calculate genotype and allele frequencies of the two groups. Analyzed differences of genotype and allele frequencies in the two groups using chi-square test and found out SNP loci that associated with high myopia.Results:All the genotype frequencies of these SNPs were in Hardy-Weinberg equilibrium (HWE) (P>0.05). The genotype and allele frequencies of rs1943049 and rs7035322 polymorphism in the high myopia patients were significantly different from those of the healthy control group (P<0.05). There were no significant differences in genotypes and allele frequency distribution of rs934857、rs1105191、rs10811299和rs7933853 between patients with high myopia and healthy controls (P> 0.05).Conclusion:rs7035322 single nucleotide polymorphism analyzed in the present study is significantly associated with high myopia.

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CLC: > Medicine, health > Ophthalmology > Eye dioptrics > Eye application dioptrics > Myopia
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