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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
1

The fragile X syndrome of mental retardation in the Chinese population.

January 1995 (has links)
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
2

The FMR1 gene in mental retardation. / CUHK electronic theses & dissertations collection

January 1997 (has links)
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.

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