Thesis (Ph. D. in Nursing Science)--Vanderbilt University, May 2008. / Title from title screen. Includes bibliographical references.

Thesis (M.S.)--West Virginia University, 2000. / Title from document title page. Document formatted into pages; contains iv, 50 p. Includes abstract. Includes bibliographical references (p. 28-30).

Thesis (M.Med.Sc.)--University of Hong Kong, 2003. / Also available in print.

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Lee Tracy Yuen Han. / Thesis (M.Phil.)--Chinese University of Hong Kong, 2006. / Includes bibliographical references (leaves 168-187). / Abstracts in English and Chinese. / Abstract --- p.ii / 摘要 --- p.v / Acknowledgements --- p.vi / Table of contents --- p.viii / List of tables --- p.xii / List of figures --- p.xiii / List of abbreviations --- p.xiv / Chapter Chapter 1: --- Prenatal diagnosis --- p.1 / Chapter 1.1 --- Historical overview --- p.1 / Chapter 1.1.1 --- Prenatal diagnosis --- p.1 / Chapter 1.1.2 --- Circulating fetal nucleated cells --- p.2 / Chapter 1.1.3 --- Cell-free fetal DNA in maternal plasma --- p.3 / Chapter 1.2 --- Biological characteristics of circulating DNA --- p.4 / Chapter 1.3 --- Origin of circulating DNA --- p.6 / Chapter 1.4 --- Clinical applications of circulating fetal DNA --- p.7 / Chapter 1.5 --- Quantitative aberrations in circulating fetal DNA --- p.9 / Chapter 1.6 --- Epigenetic approach in detecting circulating fetal DNA --- p.11 / Chapter Chapter 2: --- Epigenetics --- p.14 / Chapter 2.1 --- Historical overview --- p.14 / Chapter 2.2 --- Mechanisms of DNA methylation --- p.15 / Chapter 2.3 --- Roles of DNA methylation --- p.17 / Chapter 2.4 --- Aberrations in DNA methylation --- p.20 / Chapter 2.5 --- Epigenetic diagnostic markers --- p.22 / Chapter 2.6 --- Significance of epigenetic markers in noninvasive prenatal diagnosis --- p.23 / Chapter 2.7 --- Aim of thesis --- p.23 / Chapter Chapter 3: --- Materials and methods --- p.25 / Chapter 3.1 --- Preparation of samples --- p.25 / Chapter 3.1.1 --- Collection of placental tissues --- p.25 / Chapter 3.1.2 --- Preparation of plasma and blood cells --- p.25 / Chapter 3.2 --- Nucleic acid extraction --- p.26 / Chapter 3.2.1 --- DNA extraction from placental tissues --- p.26 / Chapter 3.2.2 --- DNA extraction from plasma --- p.26 / Chapter 3.2.3 --- DNA extraction from blood cells --- p.29 / Chapter 3.3 --- Bisulfite genomic sequencing --- p.30 / Chapter 3.3.1 --- Principles of bisulfite modification --- p.30 / Chapter 3.3.2 --- Primer design for bisulfite sequencing --- p.31 / Chapter 3.3.3 --- Bisulfite genomic sequencing --- p.31 / Chapter 3.3.3.1 --- Bisulfite modification --- p.31 / Chapter 3.3.3.2 --- Bisulfite genomic sequencing --- p.32 / Chapter 3.3.4 --- Data and statistical analysis --- p.38 / Chapter 3.4 --- MALDI-TOF Mass Spectrometry (MS) --- p.39 / Chapter 3.4.1 --- Principle of MALDI-TOF MS and MassEXTEND assay --- p.39 / Chapter 3.4.2 --- Methylation-sensitive restriction enzyme digestion and MassEXTEND assay for PDE9A and H19 --- p.41 / Chapter 3.5 --- Quantitative measurements of nucleic acids --- p.44 / Chapter 3.5.1 --- Principles of real-time quantitative PCR --- p.44 / Chapter 3.5.2 --- Methylation-specific qMSP assay for M- and U-PDE9A --- p.47 / Chapter Chapter 4: --- Systematic screening of 8 CGIs in third trimester pregnancy --- p.49 / Chapter 4.1 --- Introduction --- p.49 / Chapter 4.2 --- Methods --- p.50 / Chapter 4.2.1 --- Subjects --- p.50 / Chapter 4.2.2 --- Experimental design --- p.51 / Chapter 4.3 --- Results --- p.54 / Chapter 4.3.1 --- Methylation profile of 8 CGIs in maternal blood cells and paired placental tissues --- p.54 / Chapter 4.3.1.1 --- Methylation profile of PDE9A in third trimester pregnancy --- p.56 / Chapter 4.3.1.2 --- Methylation profile of PPP1R2P2 in third trimester pregnancy --- p.60 / Chapter 4.3.1.3 --- Methylation profile of LOC115376 in third trimester pregnancy --- p.65 / Chapter 4.3.1.4 --- Methylation profile of AM L1 in third trimester pregnancy --- p.71 / Chapter 4.3.1.5 --- Methylation profile of COL6A2 in third trimester pregnancy --- p.78 / Chapter 4.3.1.6 --- Methylation profile of PRDM15 in third trimester pregnancy --- p.82 / Chapter 4.3.1.7 --- Methylation profile of CG1111 in third trimester pregnancy --- p.86 / Chapter 4.3.1.8 --- Methylation profile of CGI121 in third trimester pregnancy --- p.90 / Chapter 4.3.2 --- Methylation profile of regions upstream and downstream of PDE9A in maternal blood cells and paired placental tissues --- p.94 / Chapter 4.3.2.1 --- Methylation profiles of PDE9A_A and PDE9ÁؤB in third trimester pregnancy --- p.96 / Chapter 4.3.2.2 --- Methylation profile of PDE9ÁؤC in third trimester pregnancy --- p.100 / Chapter 4.4 --- Discussion --- p.104 / Chapter Chapter 5: --- "Methylation analysis of PPP1R2P2, PDE9A, PDE9A B and PDE9ÁؤC in first trimester pregnancy" --- p.108 / Chapter 5.1 --- Introduction --- p.108 / Chapter 5.2 --- Methods --- p.109 / Chapter 5.2.1 --- Subjects --- p.109 / Chapter 5.2.2 --- Experimental design --- p.109 / Chapter 5.3 --- Results --- p.110 / Chapter 5.3.1 --- Methylation profile of PPP1R2P2.Region A in first trimester pregnancy. --- p.110 / Chapter 5.3.2 --- Methylation profile of PDE9A in first trimester pregnancy --- p.115 / Chapter 5.3.3 --- Methylation profile of PDE9A B in first trimester pregnancy --- p.119 / Chapter 5.3.4 --- Methylation profile of PDE9A C in first trimester pregnancy --- p.123 / Chapter 5.4 --- Discussion --- p.127 / Chapter Chapter 6: --- "Methylation analysis of PPP1R2P2, PDE9A and PDE9ÁؤB in Trisomy 21 pregnancy" --- p.129 / Chapter 6.1 --- Introduction --- p.129 / Chapter 6.2 --- Methods --- p.130 / Chapter 6.2.1 --- Subjects --- p.130 / Chapter 6.2.2 --- Experimental design --- p.131 / Chapter 6.3 --- Results --- p.131 / Chapter 6.3.1 --- Methylation profile of PPP1R2P2 in trisomy 21 placental tissues --- p.131 / Chapter 6.3.2 --- Methylation profile of PDE9A in trisomy 21 placental tissues --- p.136 / Chapter 6.3.3 --- Methylation profile of PDE9A B in trisomy 21 placental tissues --- p.140 / Chapter 6.4 --- Discussion --- p.144 / Chapter Chapter 7: --- Investigation of imprinting status of PDE9A --- p.145 / Chapter 7.1 --- Introduction --- p.145 / Chapter 7.2 --- Methods --- p.147 / Chapter 7.2.1 --- Subjects --- p.147 / Chapter 7.2.2 --- Experimental design --- p.147 / Chapter 7.3 --- Results --- p.149 / Chapter 7.3.1 --- SNP detection in enzyme digested placental tissues by H19 assay --- p.149 / Chapter 7.3.2 --- SNP detection in enzyme digested placental tissues by PDE9A assay --- p.151 / Chapter 7.4 --- Discussion --- p.153 / Chapter Chapter 8: --- Detection of U-PDE9A DNA sequences in maternal plasma --- p.155 / Chapter 8.1 --- Introduction --- p.155 / Chapter 8.2 --- Methods --- p.156 / Chapter 8.2.1 --- Subjects --- p.156 / Chapter 8.2.2 --- Experimental design --- p.156 / Chapter 8.3 --- Results --- p.157 / Chapter 8.3.1 --- Detection of U-PDE9A DNA sequences in maternal plasma --- p.157 / Chapter 8.3.2 --- Clearance of U-PDE9A DNA sequences from maternal plasma after delivery --- p.157 / Chapter 8.4 --- Discussion --- p.160 / Chapter Chapter 9: --- Conclusion and future perspectives --- p.162 / Chapter 9.1 --- Methylation profiles of CpG islands on chromosome 21q --- p.162 / Chapter 9.2 --- Investigation of imprinting status of PDE9A --- p.164 / Chapter 9.3 --- Development of a universal epigenetic marker --- p.165 / Chapter 9.4 --- Future perspectives --- p.166 / References --- p.168

Chiu Wai Kwun Rossa. / "July 2004." / Thesis (Ph.D.)--Chinese University of Hong Kong, 2004. / Includes bibliographical references (p. 144-176). / 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. / Abstracts in English and Chinese.

The discovery of fetal-derived circulating nucleic acids in maternal plasma has opened up new opportunities for non-invasive prenatal diagnosis. This non-invasive means of obtaining fetal genetic materials is safer than invasive tissue-sampling procedures, which are associated with a small but finite chance of fetal loss. Over the past decade, the detection of fetal DNA in maternal plasma has evolved from dependency on discriminative genetic markers, such as Y-chromosome-specific loci or paternally-inherited polymorphisms, to detection of circulating RNA, fetal-specific methylation or by massively parallel sequencing. Fetal-specific methylation, or fetal epigenetic marker, does not require prior knowledge of the sex or polymorphic status of the fetus and thus can be applied in essentially all pergnancies. This thesis focuses on the development of this kind of marker for non-invasive monitoring and detection of pre-eclampsia and fetal aneuploidies. / The first part of this thesis describes the use of a reported fetal epigenetic marker, RASISF1A, to measure the fetal DNA concentrations in maternal plasma of pre-eclamptic subjects versus gestational-age-matched controls. The second part of this thesis describes a systematic search for potential epigenetic markers for pre-eclampsia and the second commonest fetal aneuploidy, trisomy 18. Numerous approaches for methylation profiling are described, such as methylation-specific polymerase chain reaction (MSP), bisulfite sequencing, a mass spectrometry-based platform (the Epityper assay), and methylated DNA immunoprecipitation coupled with tiling array analysis (MeDIP-chip). Using MeDIP-chip, I selected the most promising fetal epigenetic markers on chromosome 18, and further characterised their detection in maternal plasma. The final part of this thesis describes an approach called epigenetic-genetic (EGG) chromosome dosage for the detection of trisomy 18 based on those markers. I have demonstrated that it is feasible to detect fetal trisomy 18 by analysing maternal plasma in as early as the first trimester. / This thesis illustrates different strategies for methylation profiling and presented two examples of applying DNA methylation for the non-invasive prenatal assessment of pregnancy-associated disorders and fetal chromosomal aneuploidies. I envision that a similar strategy could be developed for other pregnancy-related diseases to broaden the application of epigenetic markers in non-invasive prenatal diagnosis. / Tsui, Wai Yi. / Adviser: Y.M. Dennis Lo. / Source: Dissertation Abstracts International, Volume: 73-02, Section: B, page: . / Thesis (Ph.D.)--Chinese University of Hong Kong, 2010. / Includes bibliographical references (leaves 198-221). / Electronic reproduction. Hong Kong : Chinese University of Hong Kong, [2012] System requirements: Adobe Acrobat Reader. Available via World Wide Web. / Electronic reproduction. [Ann Arbor, MI] : ProQuest Information and Learning, [201-] System requirements: Adobe Acrobat Reader. Available via World Wide Web. / Abstract also in Chinese.

Prenatal diagnosis is an established obstetrics practice in many countries. Currently available methods to obtain fetal materials for a definitive diagnosis involve invasive procedures such as chorionic villus sampling and amniocentesis. Due to the invasive nature of the procedures, confirmatory testing is usually recommended only for pregnant women who are screened as being high risk of bearing a fetus with abnormalities. There has been an urge to develop safer alternatives in obtaining fetal genetic materials for prenatal assessment. Thus, the discovery of circulating fetal DNA in maternal plasma and serum has opened up new possibilities for noninvasive prenatal diagnosis. / The use of genetic markers such as Y chromosomal sequences from a male fetus or paternally-inherited polymorphic markers has been well-described in the literature. However, there is an obvious limitation on the use of these markers because they are gender- and/or polymorphism-dependent. This thesis focuses on the development of a universal fetal marker, namely SERPINB5 (encoding maspin), based on the intrinsic epigenetic differences between the placenta (the major contributor of fetal genetic materials in maternal plasma) and maternal blood cells (postulated to be the predominant source of cell-free DNA in the circulation). Analysis of the methylation profile of the SERPINB5 promoter in the placenta and maternal blood cells, and the development of methods and protocols to detect the differentially methylated SERPINB5 promoter molecules are described. The application of this epigenetic marker in prenatal assessment of the fetal chromosomal aneuploidy is illustrated by an epigenetic allelic ratio (EAR) approach. Basically, the ratio of a single-nucleotide polymorphism (SNP) on the placenta-derived SERPINB5 molecules is shown to be deviated in the maternal plasma from trisomic pregnancies when compared to the euploid ones. Results described in this thesis show the promising potential for the EAR approach for the noninvasive prenatal detection of fetal chromosomal aneuploidies. In addition, a novel approach for methylation analyses on the amplification and detection of restriction enzyme-digested DNA fragments will be discussed. This thesis has essentially described the evolution of a fetal epigenetic marker from basic science to potential clinical application. / Tong, Yu Kwan. / Adviser: Yuk-Ming Dennis Lo. / Source: Dissertation Abstracts International, Volume: 69-02, Section: B, page: 0953. / Thesis (Ph.D.)--Chinese University of Hong Kong, 2007. / Includes bibliographical references (leaves 149-172). / Electronic reproduction. Hong Kong : Chinese University of Hong Kong, [2012] System requirements: Adobe Acrobat Reader. Available via World Wide Web. / Electronic reproduction. [Ann Arbor, MI] : ProQuest Information and Learning, [200-] System requirements: Adobe Acrobat Reader. Available via World Wide Web. / Abstract also in Chinese. / School code: 1307.

Bibliography: leaves 197-219. / vii, 252 leaves ; / Title page, contents and abstract only. The complete thesis in print form is available from the University Library. / Thesis (M.D.)--University of Adelaide, Dept. of Medicine, 1997?