by Zhao Zheng. / Thesis (M.Phil.)--Chinese University of Hong Kong, 1995. / Includes bibliographical references (leaves 87-98). / Acknowledgements --- p.i / Abstract --- p.ii / List of Tables --- p.iii / List of Figures --- p.iv / Chapter Chapter 1 --- Introduction --- p.i / Chapter 1.1 --- History --- p.1 / Chapter 1.2 --- Chromosomal Fragile Sites --- p.2 / Chapter 1.3 --- Cytogenetics of the Fragile Site at Xq27.3 --- p.3 / Chapter 1.4 --- Clinical Findings in Fragile X --- p.5 / Chapter 1.5 --- Prevalence --- p.6 / Chapter 1.6 --- The Mode of Inheritance and the Sherman Paradox --- p.8 / Chapter 1.7 --- Molecular Genetics of the FMR-1 Gene --- p.11 / Chapter 1.7.1 --- The Mutation Locus and Linkage Analysis --- p.11 / Chapter 1.7.2 --- Abnormal DNA Methylation in the CpG Island --- p.12 / Chapter 1.7.3 --- Isolation of the FMR-1 Gene --- p.13 / Chapter 1.7.4 --- CGG Trinucleotide Repeats in FMR-1 --- p.13 / Chapter 1.7.5 --- DNA Instability and Mutational Mechanisms --- p.17 / Chapter 1.7.6 --- Gene Expression --- p.18 / Chapter 1.7.7 --- Resolution of the Sherman Paradox --- p.19 / Chapter 1.8 --- Methods of Detection for the Fragile X Mutation --- p.20 / Chapter 1.8.1 --- Cytogenetic Analysis --- p.20 / Chapter 1.8.2 --- Diagnosis by Direct DNA Analysis --- p.21 / Chapter 1.8.2.1 --- Southern Blot Analysis --- p.22 / Chapter 1.8.2.2 --- PCR Analysis --- p.27 / Chapter 1.9 --- Studies of the Fragile X Syndrome in Mainland China --- p.29 / Chapter Chapter 2 --- Objectives of the Project --- p.33 / Chapter Chapter 3 --- Materials and Methods --- p.34 / Chapter 3.1 --- Chemical Materials --- p.34 / Chapter 3.1.1 --- Enzymes --- p.34 / Chapter 3.1.2 --- DNA Markers --- p.34 / Chapter 3.1.3 --- Reagent Kits --- p.34 / Chapter 3.1.4 --- Primers for Polymerase Chain Reaction --- p.35 / Chapter 3.1.5 --- Chemical Reagents --- p.35 / Chapter 3.1.6 --- Nylon Membranes --- p.36 / Chapter 3.1.7 --- Radioisotopes --- p.36 / Chapter 3.1.8 --- Buffers and Solutions --- p.36 / Chapter 3.2 --- Clinical Materials --- p.38 / Chapter 3.2.1 --- Control Subjects --- p.38 / Chapter 3.2.2 --- Fragile X Patients --- p.39 / Chapter 3.2.3 --- Mentally Retarded Patients --- p.39 / Chapter 3.3 --- Methods --- p.40 / Chapter 3.3.1 --- Blood Collection --- p.40 / Chapter 3.3.2 --- DNA Isolation --- p.43 / Chapter 3.3.2.1 --- The Salting-out Method --- p.43 / Chapter 3.3.2.2 --- DNA Quantitation --- p.44 / Chapter 3.3.3 --- Labelling of StB12.3 Probe by [α-32P]-dCTP --- p.44 / Chapter 3.3.3.1 --- The Random Priming Method --- p.44 / Chapter 3.3.3.2 --- Purification of Radioactive StB12.3 Probe --- p.45 / Chapter 3.3.3.3 --- Assessment of [α-32P] Incorporation in StB12.3 --- p.45 / Chapter 3.3.4 --- Southern Blot Analysis --- p.46 / Chapter 3.3.4.1 --- Preparation of DNA Fragments --- p.46 / Chapter 3.3.4.2 --- Blotting by Capillary Action --- p.46 / Chapter 3.3.4.3 --- Southern Hybridization --- p.47 / Chapter 3.3.5 --- PCR Amplification and Detection of PCR Products --- p.48 / Chapter 3.3.5.1 --- PCR Amplification --- p.48 / Chapter 3.3.5.2 --- Labelling of (CGG)5 Probe and HpaII Digested pBR322 DNA Marker --- p.49 / Chapter 3.3.5.3 --- Detection of the PCR Products --- p.50 / Chapter Chapter 4 --- Results --- p.52 / Chapter 4.1 --- Amplification of the FMR-1 Gene --- p.52 / Chapter 4.2 --- Analysis of the FRAXA Site by Southern Hybridization --- p.52 / Chapter 4.3 --- Distribution of CGG Repeat Sizes in Normal Unrelated Chinese Subjects in Hong Kong --- p.55 / Chapter 4.4 --- Comparison of CGG Repeat Patterns Among Normal Subjects from Different Parts of China --- p.61 / Chapter 4.5 --- CGG Repeat Pattern in Mildly Mentally Retarded Children in Hong Kong --- p.65 / Chapter 4.6 --- Investigation of Suspected Fragile X Families --- p.69 / Chapter Chapter 5 --- Discussions --- p.73 / Chapter 5.1 --- Distribution of CGG Repeats in Normal Chinese Population --- p.73 / Chapter 5.2 --- Overlap Between the Normal and Premutation Alleles --- p.78 / Chapter 5.3 --- CGG Allele Distribution in Mildly MR Patients --- p.79 / Chapter 5.4 --- Molecular Analysis of Fragile X Syndrome Families --- p.80 / Chapter 5.5 --- Somatic Instability of CGG Repeats --- p.82 / Chapter Chapter 6 --- Conclusions --- p.85 / Bibliography --- p.87

by Priscilla Miu-kuen Poon. / Thesis (Ph.D.)--Chinese University of Hong Kong, 1997. / Includes bibliographical references (p. 176-193). / Electronic reproduction. Hong Kong : Chinese University of Hong Kong, [2012] System requirements: Adobe Acrobat Reader. Available via World Wide Web. / Mode of access: World Wide Web.