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Targeted genomic inversion using zinc finger nucleases : Toward gene therapy for Haemophilia A
DC Field | Value | Language |
---|---|---|
dc.contributor.advisor | 김진수 | - |
dc.contributor.author | 권지연 | - |
dc.date.accessioned | 2017-07-27T02:16:48Z | - |
dc.date.available | 2017-07-27T02:16:48Z | - |
dc.date.issued | 2012-08 | - |
dc.identifier.other | 000000002771 | - |
dc.identifier.uri | https://hdl.handle.net/10371/134865 | - |
dc.description | 학위논문 (석사)-- 서울대학교 대학원 : 화학부, 2012. 8. 김진수. | - |
dc.description.abstract | As whole genome sequencing technology develops rapidly, there are many reports about structural variation in genome. Structural variations, which include insertions, deletions, duplications, translocations and inversions, occur in more wide region of genome than single-nucleotide polymorphisms. These structural variations are found in normal populations of human in some cases, but these are the cause of many genetic diseases. Especially, Haemophilia A and Hunter syndrome are caused by genomic inversion.
For this reasons, structural variations are highly regarded in the fields of therapy of genetic disorders. Despite the importance of structural variations, it is difficult to investigate the mechanism of these, because there are no molecular tools to induce structural variations in genome. Here in this study, inducements of genomic inversions in human genomes are attempted using zinc finger nuclease technology. Zinc finger nucleases are made to induce genomic inversions in the region of Intron 1 of F8 gene-cause of severe Haemophilia A-and validated by various methods. Theses results hold new promises for the gene therapy of Haemophilia A and it is hoped that zinc finger nuclease technologies are widely used in the fields of gene therapy, based on this study. | - |
dc.description.tableofcontents | Table of Contents
Abstract 1 Table of Contents 3 List of Figures and Tables 4 I. Introduction 5 II. Materials and Methods 7 1. Plasmid construction 2. Cell culture and transfection method 3. T7 endonuclease I assay 4. PCR analysis of genomic inversion and sequencing of breakpoint junctions 5. Estimation of inversion frequencies 6. Isolation of single clones 7. Genomic DNA preparation from Haemophilia A patients III. Results and Discussion 11 1. Construction and validation of ZFNs 2. Improvements of ZFN specificity and activity 3. Frequency of ZFN-induced inversion and clonal assay 4. Inducing inversion in primary human blood cells IV. Figures and Tables 19 V. References 28 Abstract in Korean 30 | - |
dc.format | application/pdf | - |
dc.format.extent | 1135752 bytes | - |
dc.format.medium | application/pdf | - |
dc.language.iso | en | - |
dc.publisher | 서울대학교 대학원 | - |
dc.subject | zinc finger nuclease (ZFN) | - |
dc.subject | double-strand break (DSB) | - |
dc.subject | structural variation(SVs) | - |
dc.subject | genomic inversion | - |
dc.subject | Haemophilia A | - |
dc.subject | F8 gene | - |
dc.subject.ddc | 540 | - |
dc.title | Targeted genomic inversion using zinc finger nucleases : Toward gene therapy for Haemophilia A | - |
dc.type | Thesis | - |
dc.description.degree | Master | - |
dc.citation.pages | 30 | - |
dc.contributor.affiliation | 자연과학대학 화학부 | - |
dc.date.awarded | 2012-08 | - |
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