Yeung Kwun Yan. / Thesis submitted in: December 2000. / Thesis (M.Phil.)--Chinese University of Hong Kong, 2001. / Includes bibliographical references (leaves 106-122). / Abstracts in English and Chinese. / Acknowledgements --- p.iv / Table of Contents --- p.v / List of Tables --- p.viii / List of Figures --- p.ix / Abbreviations --- p.x / Conference Presentations --- p.xii / Chapter Chapter 1 --- Introduction --- p.1 / Chapter 1.1 --- Retinitis Pigmentosa (RP) --- p.1 / Chapter 1.1.1 --- Molecular genetics --- p.1 / Chapter 1.1.2 --- Clinical features --- p.2 / Chapter 1.1.3 --- Clinical classifications of RP --- p.3 / Chapter 1.2 --- Molecular Biology of Rhodopsin --- p.4 / Chapter 1.2.1 --- Anatomy and functions of human retina --- p.4 / Chapter 1.2.2 --- Physiology of rhodopsin --- p.5 / Chapter 1.2.3 --- Rhodopsin cycle and the visual transduction cascade --- p.7 / Chapter 1.2.4 --- The human rhodopsin gene (RHO) --- p.8 / Chapter 1.2.5 --- RHO mutations --- p.8 / Chapter 1.2.6 --- Frequencies & phenotypes ofmutations --- p.10 / Chapter 1.2.7 --- Findings of in vitro experiments --- p.11 / Chapter 1.2.8 --- Findings in animal models --- p.12 / Chapter 1.2.9 --- Findings in human --- p.14 / Chapter 1.3 --- Molecular Biology of RP1 --- p.15 / Chapter 1.3.1 --- RP1 gene in animals --- p.16 / Chapter 1.3.2 --- Mutations in RP1 --- p.16 / Chapter 1.3.3 --- Phenotypes & frequencies of RP1mutations --- p.17 / Chapter 1.4 --- Mutation Pattern of RHO & RP1 in Chinese --- p.18 / Chapter 1.5 --- Methods for Detecting Mutations in RHO and RP1 --- p.18 / Chapter 1.6 --- Management of RP --- p.20 / Chapter Chapter 2 --- Study Objectives --- p.31 / Chapter Chapter 3 --- Methodology --- p.32 / Chapter 3.1 --- Study Subjects --- p.32 / Chapter 3.2 --- Clinical Data Sheet --- p.32 / Chapter 3.3 --- "Chemicals, Reagents, and Kits" --- p.35 / Chapter 3.4 --- Solutions and Buffers --- p.36 / Chapter 3.5 --- Enzymes --- p.37 / Chapter 3.6 --- Equipment --- p.37 / Chapter 3.7 --- Software --- p.38 / Chapter 3.8 --- "Oligonucleotide Primers for PCR, CSGE and Sequencing" --- p.38 / Chapter 3.9 --- DNA Extraction --- p.38 / Chapter 3.9.1 --- DNA extraction from blood samples --- p.39 / Chapter 3.9.2 --- DNA extraction from buccal swab --- p.39 / Chapter 3.9.3 --- DNA quantitation --- p.39 / Chapter 3.10 --- Polymerase Chain Reaction (PCR) --- p.40 / Chapter 3.10.1 --- Amplification of RHO --- p.40 / Chapter 3.10.2 --- Amplification of RP1 --- p.40 / Chapter 3.11 --- Gel Electrophoresis --- p.40 / Chapter 3.11.1 --- Agarose gel electrophoresis --- p.41 / Chapter 3.11.2 --- Conformation sensitive gel electrophoresis (CSGE) --- p.41 / Chapter 3.11.3 --- DNA sequencing --- p.42 / Chapter 3.12 --- Statistical Methods --- p.43 / Chapter Chapter 4 --- Results --- p.51 / Chapter 4.1 --- Study Subjects --- p.51 / Chapter 4.1.1 --- RP index patients --- p.51 / Chapter 4.1.2 --- Family members of index patients --- p.51 / Chapter 4.1.3 --- Controls --- p.51 / Chapter 4.2 --- Genetic subtypes of RP in our study --- p.52 / Chapter 4.3 --- PCR --- p.52 / Chapter 4.4 --- Conformation Sensitive Gel Electrophresis (CSGE) --- p.53 / Chapter 4.5 --- Direct DNA Sequencing --- p.53 / Chapter 4.5.1 --- Sequence alterations in RHO --- p.54 / Chapter 4.5.2 --- Sequence alterations in RP1 --- p.56 / Chapter 4.6 --- Family Studies --- p.60 / Chapter Chapter 5 --- Discussion --- p.77 / Chapter 5.1 --- The Expected Frequencies of RHO & RP1 Mutationsin Chinese RP Patients --- p.82 / Chapter 5.2 --- The Mutation Screening Technique in this Study --- p.84 / Chapter 5.3 --- Mutations and Sequence Alterations Identified in RHO --- p.86 / Chapter 5.3.1 --- Novel mutation: 521 ldelC --- p.86 / Chapter 5.3.2 --- Reported mutation: Pro347Leu --- p.90 / Chapter 5.3.3 --- Novel nonpathogenic missense change: Ala299Ser --- p.92 / Chapter 5.3.4 --- Novel silent sequence alterations --- p.93 / Chapter 5.3.5 --- Other polymorphisms in RHO --- p.93 / Chapter 5.4 --- Mutation and Sequence Alterations Detected in RP1 --- p.94 / Chapter 5.4.1 --- Mutation found in Chinese: Arg677ter --- p.95 / Chapter 5.4.2 --- Novel nonsense sequence alteration: Arg l933ter --- p.96 / Chapter 5.4.3 --- Novel missense and non-coding changes in RP1 --- p.97 / Chapter 5.4.4 --- Reported polymorphisms --- p.98 / Chapter 5.5 --- Possible Functions of RP1 --- p.99 / Chapter Chapter 6 --- Conclusion --- p.105 / Chapter Chapter 7 --- References --- p.106