by Lo Man-har. / Thesis (M.Sc.)--Chinese University of Hong Kong, 1994. / Includes bibliographical references (leaves 56-63). / LIST OF FIGURES --- p.5 / LIST OF TABLES --- p.6 / ACKNOWLEDGEMENTS --- p.8 / SUMMARY --- p.9 / Chapter 1. --- INTRODUCTION --- p.11 / Chapter 1.1 --- Lipid metabolism --- p.11 / Chapter 1.1.1 --- Chylomicron --- p.12 / Chapter 1.1.2 --- Very low density lipoprotein --- p.12 / Chapter 1.1.3 --- Low density lipoprotein --- p.13 / Chapter 1.1.4 --- High density lipoprotein --- p.14 / Chapter 1.2 --- Apolipoprotein B --- p.14 / Chapter 1.3 --- Apolipoprotein B gene --- p.15 / Chapter 1.4 --- Genetic variations in human apo B gene and their associations with abnormal lipid metabolism --- p.16 / Chapter 1.4.1 --- Abetalipoproteinemia --- p.16 / Chapter 1.4.2 --- Hypobetalipoproteinemia --- p.17 / Chapter 1.4.3 --- Familial hypercholesterolemia (FH) --- p.17 / Chapter 1.5 --- Polymorphisms of apo B gene --- p.17 / Chapter 1.6 --- Methods for detection of polymorphisms --- p.19 / Chapter 2. --- OBJECTIVES --- p.20 / Chapter 3. --- MATERIALS AND METHODS --- p.21 / Chapter 3.1 --- Materials and equipments --- p.21 / Chapter 3.1.1 --- Enzymes --- p.21 / Chapter 3.1.2 --- DNA markers --- p.21 / Chapter 3.1.3 --- General reagents --- p.21 / Chapter 3.1.4 --- Equipments --- p.22 / Chapter 3.2 --- Buffers --- p.22 / Chapter 3.3 --- Agarose gel electrophoresis --- p.22 / Chapter 3.4 --- Study subjects --- p.23 / Chapter 3.4.1 --- Cord blood samples --- p.23 / Chapter 3.4.2 --- Geriatric subjects --- p.23 / Chapter - --- Cases --- p.23 / Chapter - --- Controls --- p.24 / Chapter 3.5 --- Clinical Data --- p.24 / Chapter 3.6 --- Blood collection --- p.24 / Chapter 3.7 --- Biochemical analysis --- p.25 / Chapter 3.8 --- DNA extractions --- p.25 / Chapter 3.9 --- Polymerase chain reaction (PCR) --- p.26 / Chapter - --- Oligonucleotide primers --- p.26 / Chapter - --- Signal peptide insertion/deletion polymorphism --- p.26 / Chapter - --- Xba I polymorphism --- p.27 / Chapter - --- Eco RI polymorphism --- p.28 / Chapter 3.10 --- Data analysis --- p.29 / Chapter 4. --- RESULTS --- p.30 / Chapter 4.1 --- Optimization of PCR --- p.30 / Chapter 4.2 --- Clinical features of the case and control subjects --- p.30 / Chapter 4.3 --- Genotyping --- p.31 / Chapter 5. --- DISCUSSION --- p.33 / Chapter 5.1 --- Optimization of PCR protocols --- p.33 / Chapter 5.2 --- Clinical data --- p.34 / Chapter 5.3 --- Allelic frequencies of the three polymorphisms of apo B gene --- p.35 / Chapter 5.4 --- Association of polymorphisms of apo B gene with the case group --- p.36 / Chapter 5.5 --- Association of polymorphisms of apo B gene with hyperlipidaemia --- p.36 / Chapter - --- Signal peptide insertion/deletion polymorphism --- p.36 / Chapter - --- Xba I polymorphism --- p.38 / Chapter - --- Eco RI polymorphism --- p.38 / Chapter 5.6 --- Conclusion --- p.39 / APPENDIX I --- p.53 / APPENDIX II --- p.54 / Chapter 6. --- REFERENCES --- p.56