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Genetic investigation of age-related macular degeneration and polypoidal choroidal vasculopathy. / CUHK electronic theses & dissertations collectionJanuary 2013 (has links)
Liu, Ke. / Thesis (Ph.D.)--Chinese University of Hong Kong, 2013. / Includes bibliographical references (leaves 175-198). / Electronic reproduction. Hong Kong : Chinese University of Hong Kong, [2012] System requirements: Adobe Acrobat Reader. Available via World Wide Web. / Abstract also in Chinese.
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Exploration of the molecular genetics of exudative age-related macular degeneration.January 2007 (has links)
Tam, Oi Sin Pancy. / Thesis (M.Phil.)--Chinese University of Hong Kong, 2007. / Includes bibliographical references (leaves 101-128). / Abstracts in English and Chinese. / Table of Contents / Title page --- p.i / Abstract --- p.iii / 摘要 --- p.vi / Acknowledgements --- p.viii / Table of Contents --- p.ix / List of Figures --- p.xiii / List of Tables --- p.xv / Abbreviations --- p.xvii / Publications related to the work of this thesis --- p.xx / Conference Presentations related to this thesis --- p.xxi / Chapter Chapter 1 --- Introduction / Chapter 1.1 --- AMD --- p.1 / Chapter 1.2 --- Epidemiology --- p.4 / Chapter 1.3 --- Classification --- p.5 / Chapter 1.3.1 --- Dry AMD --- p.6 / Chapter 1.3.2 --- Wet/Exudative AMD --- p.9 / Chapter 1.4 --- Etiology and risk factors of AMD --- p.10 / Chapter 1.4.1 --- Gender and Ethnicity --- p.10 / Chapter 1.4.2 --- Smoking and vascular factors --- p.11 / Chapter 1.4.3 --- Genetic Factor --- p.11 / Chapter 1.5 --- Molecular Genetics of AMD --- p.12 / Chapter 1.5.1 --- Linkage studies --- p.12 / Chapter 1.5.2 --- Candidate genes search --- p.15 / Chapter 1.5.3 --- Genome-Wide Association --- p.18 / Chapter 1.5.3.1 --- Complement Factor H --- p.20 / Chapter 1.5.3.2 --- LOC387715 --- p.22 / Chapter 1.6 --- Statistical Analysis --- p.23 / Chapter 1.6.1 --- Genotyping --- p.23 / Chapter 1.6.2 --- Quality Assessment of Genetic Data --- p.24 / Chapter 1.6.3 --- Association Analysis --- p.26 / Chapter 1.6.4 --- Population Stratification --- p.26 / Chapter 1.6.5 --- Haplotype Analysis of Multiple SNPs --- p.26 / Chapter 1.6.6 --- Population Attributable Risk --- p.27 / Chapter 1.6.7 --- Interaction analysis --- p.28 / Chapter 1.7 --- Objectives --- p.28 / Chapter Chapter 2 --- Materials and Method --- p.30 / Chapter 2.1. --- Materials --- p.30 / Chapter 2.1.1. --- Proteins --- p.30 / Chapter 2.1.2. --- Chemicals --- p.30 / Chapter 2.1.3. --- Solutions and Buffers --- p.31 / Chapter 2.1.4. --- Reagents and Kits --- p.31 / Chapter 2.1.5. --- Apparatus --- p.32 / Chapter 2.1.6. --- Softwares --- p.32 / Chapter 2.2. --- Methods --- p.32 / Chapter 2.2.1. --- Study Subjects --- p.33 / Chapter 2.2.2. --- AMD atients --- p.33 / Chapter 2.2.3. --- Control Subjects --- p.34 / Chapter 2.2.4. --- DNA Extraction and Quantification --- p.34 / Chapter 2.2.5. --- Whole genome wide SNP scanning --- p.34 / Chapter 2.2.6. --- HTRA1 Genotyping --- p.38 / Chapter 2.2.6.1. --- Serial Polymerase Chain Reactions --- p.38 / Chapter 2.2.6.2. --- Cycle sequencing --- p.40 / Chapter 2.3. --- Statistical analysis --- p.40 / Chapter 2.3.1. --- Hardy-Weinberg Equilibrium Test --- p.40 / Chapter 2.3.2. --- Association Analysis: Linkage disequilibrium --- p.42 / Chapter 2.3.3. --- Haplotype Analysis --- p.43 / Chapter 2.3.4. --- Interaction Analysis --- p.43 / Chapter Chapter 3 --- Results --- p.46 / Chapter 3.1. --- Genome-wide Association Study of Exudative AMD --- p.46 / Chapter 3.1.1. --- Genotyping and Association Analysis --- p.46 / Chapter 3.1.2. --- Haplotype Analysis --- p.50 / Chapter 3.2. --- HTRA1 Genotyping --- p.57 / Chapter 3.2.1. --- Association Analysis --- p.57 / Chapter 3.2.2. --- Haplotype Analysis --- p.68 / Chapter 3.2.3. --- rsl 1200638 - Smoking Interaction --- p.68 / Chapter 3.2.4. --- rsl 1200638 - rs800292 Interaction --- p.74 / Chapter Chapter 4 --- Discussion --- p.79 / Chapter 4.1. --- Genome-wide Association Study of Exudative AMD --- p.79 / Chapter 4.1.1. --- Limitations and Concerns of Genome-Wide Association Study --- p.84 / Chapter 4.2. --- HTRA1 Genotyping --- p.85 / Chapter 4.2.1 --- Association and Haplotype Analysis --- p.85 / Chapter 4.2.2. --- HTRA1 --- p.87 / Chapter 4.2.3. --- Gene-Environment Interaction --- p.93 / Chapter 4.2.4. --- Gene-Gene Ineraction --- p.94 / Conclusions and Future Aspects --- p.97 / Electronic-Database Information --- p.100 / References --- p.101
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