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Mutations of the low density lipoprotein receptor gene in familial hypercholesterolaemia in the Hong Kong Chinese.

by Ying Tat Mak. / Thesis (Ph.D.)--Chinese University of Hong Kong, 1996. / Includes bibliographical references (leaves 178-198). / Title --- p.1 / Abstract --- p.2 / Acknowledgments --- p.5 / Contents --- p.6 / Abbreviations --- p.9 / List of Tables --- p.11 / List of Figures --- p.13 / Chapter Chapter 1: --- Introduction / Chapter 1.1 --- Cholesterol Metabolism and Atherosclerosis --- p.15 / Chapter 1.1.1 --- Cholesterol and Cholesterol Metabolism --- p.17 / Chapter 1.1.2 --- Cholesterol Transport: Apolipoprotein and Lipoprotein --- p.23 / Chapter 1.1.3 --- Cholesterol and Atherosclerosis --- p.26 / Chapter 1.2 --- Hyperlipidaemia --- p.30 / Chapter 1.2.1 --- Primary and Secondary Hyperlipidaemia --- p.31 / Chapter 1.2.2 --- Mutations leading to Primary Hypercholesterolaemia --- p.36 / Chapter 1.3 --- Familial Hypercholesterolaemia --- p.38 / Chapter 1.3.1 --- Historical Aspects --- p.38 / Chapter 1.3.2 --- Clinical Features - Diagnosis and Consequences --- p.39 / Chapter 1.3.3 --- Population Prevalence --- p.40 / Chapter 1.3.4 --- Mutations in the Low Density Lipoprotein Receptor Gene --- p.41 / Chapter 1.4 --- Methods for Detecting Mutations in LDL Receptor Gene --- p.51 / Chapter 1.4.1 --- Southern Blotting Based Methods --- p.51 / Chapter 1.4.2 --- Polymerase Chain Reaction Based Methods --- p.52 / Chapter 1.4.3 --- Screening Methods for Unknown Mutations in LDL Receptor Gene --- p.56 / Chapter 1.5 --- Mutations of the LDL receptor gene in Chinese --- p.58 / Chapter Chapter 2: --- Objectives --- p.63 / Chapter Chapter 3: --- Materials and Methods / Chapter 3.1 --- Subjects / Chapter 3.1.1 --- Familial Hypercholesterolaemia Patients --- p.65 / Chapter 3.1.2 --- Normocholesterolaemia Subjects --- p.67 / Chapter 3.2 --- Materials / Chapter 3.2.1 --- Enzymes --- p.67 / Chapter 3.2.2 --- DNA Markers --- p.68 / Chapter 3.2.3 --- Reagents Kits --- p.68 / Chapter 3.2.4 --- Primers for PCR --- p.68 / Chapter 3.2.5 --- Chemicals and Reagents --- p.69 / Chapter 3.2.6 --- Radioisotopes --- p.70 / Chapter 3.2.7 --- Solutions and Buffers --- p.70 / Chapter 3.3 --- Methods / Chapter 3.3.1 --- Blood Collection --- p.71 / Chapter 3.3.2 --- General Biochemistry Tests --- p.72 / Chapter 3.3.3 --- DNA Extraction --- p.72 / Chapter 3.3.4 --- RNA Extraction --- p.73 / Chapter 3.3.5 --- Polymerase Chain Reaction --- p.74 / Chapter 3.3.6 --- Agarose Gel Electrophoresis --- p.76 / Chapter 3.3.7 --- Polyacrylamide Gel Electrophoresis --- p.78 / Chapter 3.3.8 --- Single Strand Conformation Polymorphism --- p.79 / Chapter 3.3.9 --- Reverse Transcription - Polymerase Chain Reaction --- p.79 / Chapter 3.3.10 --- Direct DNA Sequencing --- p.81 / Chapter 3.3.11 --- Haplotyping of the LDL receptor gene --- p.83 / Chapter 3.3.12 --- Restriction Enzyme Digestion --- p.84 / Chapter Chapter 4: --- Results / Chapter 4.1 --- Patients Investigations --- p.88 / Chapter 4.1.1 --- Normal Control Subjects --- p.88 / Chapter 4.1.2 --- Patients --- p.88 / Chapter 4.2 --- PCR-SSCP Analysis of LDL Receptor Gene --- p.90 / Chapter 4.3 --- Summary of Mutations Identified --- p.92 / Chapter 4.4 --- Novel Mutations --- p.94 / Chapter 4.5 --- Previously Reported Mutations --- p.97 / Chapter 4.6 --- Polymorphisms and Silent Mutation --- p.100 / Chapter 4.6.1 --- New Polymorphism --- p.100 / Chapter 4.6.2 --- New Silent Mutation --- p.102 / Chapter 4.6.3 --- Reported Polymorphisms --- p.103 / Chapter 4.7 --- Southern Blotting --- p.103 / Chapter 4.8 --- Haplotypes --- p.104 / (All Figures for Chapter 4) --- p.106 / Chapter Chapter 5: --- Discussions / Chapter 5.1 --- Use of SSCP in Screening for Mutations and Polymorphisms --- p.158 / Chapter 5.2 --- Novel and Reported Mutations --- p.160 / Chapter 5.3 --- Novel Polymorphism and Silent Mutation --- p.170 / Chapter 5.4 --- Common Polymorphisms --- p.171 / Chapter 5.5 --- Possible Common Mutations of the LDL Receptor Gene in Chinese --- p.172 / Chapter 5.6 --- Pattern of LDL Receptor Gene Mutations in Chinese --- p.173 / References --- p.178

Identiferoai:union.ndltd.org:cuhk.edu.hk/oai:cuhk-dr:cuhk_321678
Date January 1996
ContributorsMak, Ying-tat., Chinese University of Hong Kong Graduate School. Division of Pathological Sciences.
PublisherChinese University of Hong Kong
Source SetsThe Chinese University of Hong Kong
LanguageEnglish
Detected LanguageEnglish
TypeText, bibliography
Formatprint, 198 leaves : ill. (some mounted) ; 30 cm.
RightsUse of this resource is governed by the terms and conditions of the Creative Commons “Attribution-NonCommercial-NoDerivatives 4.0 International” License (http://creativecommons.org/licenses/by-nc-nd/4.0/)

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