Tesis sobre el tema "Comparative genomic hybridization"
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Stanczak, Krzysztof M. "Detection of genomic deletions by single-nucleotide polymorphism array comparative genomic hybridization". Diss., Restricted to subscribing institutions, 2007. http://proquest.umi.com/pqdweb?did=1320950331&sid=1&Fmt=2&clientId=1564&RQT=309&VName=PQD.
Texto completoMantripragada, Kiran K. "Microarray-Based Comparative Genomic Hybridization in Neurofibromatoses and DiGeorge Syndrome". Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-5743.
Texto completoBurke, Natalie. "Genetic Imbalances in Endometriosis Detected by Oligonucleotide-Array Based Comparative Genomic Hybridization". Digital Commons @ East Tennessee State University, 2013. https://dc.etsu.edu/etd/1129.
Texto completo錢文偉 y Man-wai Gary Chien. "Cytogenetic analysis of head and neck cancer by comparative genomic hybridization". Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2001. http://hub.hku.hk/bib/B31224209.
Texto completoValentine, Erin L. "Microarray-based comparative genomic hybridization of three Adams Oliver syndrome families". Oklahoma City : [s.n.], 2009.
Buscar texto completoChien, Man-wai Gary. "Cytogenetic analysis of head and neck cancer by comparative genomic hybridization /". Hong Kong : University of Hong Kong, 2001. http://sunzi.lib.hku.hk:8888/cgi-bin/hkuto%5Ftoc%5Fpdf?B23440041.
Texto completo文詠賢 y Wing-yin Cornelia Man. "Genomic aberrations in lung cancer: a study with comparative genomic hybridization and analysis of loss ofheterozygosity". Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2003. http://hub.hku.hk/bib/B31227697.
Texto completoMartin, Mallory N. "Microduplication 22q syndrome : investigation of intergenerational change using microarray-based comparative genomic hybridization /". Oklahoma City : [s.n.], 2009.
Buscar texto completoAlshammari, Nawal. "Genetic biomarkers in uveal melanoma : an exploration using high-resolution array comparative genomic hybridization". Thesis, University of Sheffield, 2017. http://etheses.whiterose.ac.uk/16803/.
Texto completoGlen, McGillivary. "Comparative Genomic Analysis Between the Haemophilus influenzae biogroup aegyptius Brazilian Purpuric Fever Invasive Strain F3031 and the Haemophilus influenzae biogroup aegyptius Non-invasive Strain F1947". Miami University / OhioLINK, 2004. http://rave.ohiolink.edu/etdc/view?acc_num=miami1088607238.
Texto completoChen, Beichen. "Identification of copy number variants associated with renal agenesis using array-based comparative genomic hybridization". Thesis, University of Iowa, 2010. https://ir.uiowa.edu/etd/655.
Texto completoBenetkiewicz, Magdalena. "Development and Application of Human Chromosome 22 Genomic Microarray : Chromosome 22-Associated Disorders Analyzed by Array-Based Comparative Genomic Hybridization". Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-6272.
Texto completoLocke, Devin Paul. "SEGMENTAL DUPLICATIONS PROMOTE GENOMIC INSTABILITY IN HUMAN CHROMOSOME 15q11-q13". Case Western Reserve University School of Graduate Studies / OhioLINK, 2004. http://rave.ohiolink.edu/etdc/view?acc_num=case1088114861.
Texto completoLuk, Catherine Yuen Yee. "Molecular cytogenetic analysis of non-small cell lung carcinoma, by comparative genomic hybridization and spectral karyotyping". Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape7/PQDD_0007/MQ45531.pdf.
Texto completoMaydan, Jason Stephen. "High-resolution mutation detection in Caenorhabditis elegans mutants and natural isolates using array comparative genomic hybridization". Thesis, University of British Columbia, 2009. http://hdl.handle.net/2429/6683.
Texto completoCastelli, Luciana Caricati Veiga. "Hibridação Genômica Comparativa em Endometriose". Universidade de São Paulo, 2008. http://www.teses.usp.br/teses/disponiveis/17/17135/tde-30052008-104355/.
Texto completoEndometriosis is a common benign gynecological disease, very aggressive, characterized by the presence of ectopic endometrial tissue. The most accepted theory to explain it is Sampson\'s implantation theory, which says that the endometrial tissue exfoliated during menstruation undergoes reflux through the uterine tubes, adheres and proliferates in ectopic sites of the peritoneal cavity. On the other hand, only reflux is not enough to the establishment of the disease and a number of studies suggest a multidimensional etiology including hereditary, hormonal and immunological factors. Several methodologies have been proposed for the identification of candidate genes for endometriosis. The comparative genomic hybridization (CGH) is a versatile technique that allows the entire genome to be analyzed in only one experiment without the necessity of metaphasic chromosomes from the sample, excluding the cell culture. We aimed to evaluate, by CGH, ovarian endometriomas and eutopic endometrial tissue samples from 10 patients with confirmed diagnosis of endometriosis, for a genomic screening. In the eutopic group, 6/10 samples presented genomic imbalances and 7/10 cases showed alterations in the ectopic group. The presence of losses and gains of chromosomic regions in the histologically normal eutopic endometrium from women with ovarian endometriosis can be considered as a primary alteration in the development of the disease. The CGH methodology allowed the detection of chromosomic regions 11q12.3-q13.1, 17p11.1-p12 and 17q25.3-qter as critical regions, leading to future investigations for the identification of genes associated to endometriosis.
Buckley, Patrick. "Development and Application of Microarray-Based Comparative Genomic Hybridization : Analysis of Neurofibromatosis Type-2, Schwannomatosis and Related Tumors". Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4786.
Texto completoMahas, Ahmed Ibrahim. "Distinguishing Melanocytic Nevi From Melanoma by DNA Copy Number Changes: Array-Comparative Genomic Hybridization As a Research Tool". Wright State University / OhioLINK, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=wright1437782090.
Texto completoAlwohhaib, M. "Detection of somatic mutations in breast cancer and non-cancerous chromosomal disorders by the application of comparative genomic hybridization". Thesis, Swansea University, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.635770.
Texto completoPotluri, Keerti. "Improving DNA quality using FFPE tissues for Array Comparative Genomic Hybridization to find Single Nucleotide Polymorphisms (SNPs) in Melanoma". Wright State University / OhioLINK, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=wright1438267267.
Texto completoToujani, Saloua. "Du chromosome au gène par un criblage global des altérations génomiques dans la malignité pour isoler de nouvelles cibles thérapeutiques". Thesis, Paris 11, 2012. http://www.theses.fr/2012PA11T027/document.
Texto completoMuch of our current understanding of cancer is based on the hypothesis that it is a genetic disease, arising as a clone of cells that expand in an unregulated fashion because of somatically acquired mutations. High-throughput tools for nucleic acid characterization, such as array comparative genomic hybridization (aCGH), now provide the means to conduct comprehensive analyses of somatic anomalies in the oncogenome.In the first part of our work we have carried out a fine mapping of additional chromosomal anomalies in Burkitt lymphoma (BL). The hallmark of this disease is the translocation t(MYC;IG). We have applied whole-genome 244K and 44k oligonucléotides aCGH to 15 cells lines and 12 primary tumors of BL respectively. Karyotype and FISH analysis were used to validate aCGH results. As expected, all translocations remained undetectable with aCGH. More than half of the copy number alterations (CNAs) < 2 Mb were mapped to Mendelian CNVs, including GSTT1, and BIRC6. Somatic cell line-specific CNVs localized to the IG locus were consistently observed with the 244 K aCGH platform. Among 136 CNAs, gains were found in 1q, 13q, 7q, 8q, 2p, 11q and 15q. Losses were found in 3p, 4p, 4q, 9p, 13q, 6p, 17p, 6q,11pterp13 and 14q12q21.3. Twenty one minimal critical regions (MCR), (range 0.04–71.36 Mb), were delineated in tumors and cell lines. Three MCRs were localized to 1q: 1q21.1q25.2, 1q32.1 et 1q44. The proximal one was mapped to 1q21.1q25.2 with a 6.3 Mb amplicon (1q21.1q21.3) harboring BCA2, BCL9 and PIAS3. Only BCL9 high level transcrit was noted on oligonucleotide microarray gene expression that was done on 15 cells lines. BCL9, was implicated in a LAL B translocation t(1;14)(q21;q32) and it is a member of MYC pathway. The 13q31.3q32.1, 89.58–96.81 Mb MCR contained an amplicon with several genes. The miR-17-92 cluster, upregulated on mirnome analysis that was done on 15 cells lines, is the gene driver of 13q MCR. The miR-17-92 cluster is a member of MYC pathway. The 9p21.3 MCR harbored p16INK4A/p15INK4B locus which is downregulated. MYC activates ARF,a protein encodes by p16INK4A/p15INK4B locus. . On the second part of our work, a 44k aCGH was applied on 17 frozen adenoid cystic carcinoma (ACC) to delineate with a high resolution the CNA associated with ACC. aCGH results were validated with FISH and/or MLPA. Protein expression was screened with immunohistochemistry analysis. The translocation t(6;9)(q23;p23p24)/ MYB-NFIB recurrent in ACC, was not detected with aCGH. In one case, the der(6)t(6;9) was suspected in the aCGH pattern. There were recurrent gains at 7p15.2, 17q21–25, 22q11–13, and recurrent losses at 1p35, 6q22–25, 8q12–13, 9p21, 12q12–13, and 17p11–13. Thirteen MCR were detected. The recurrent deletion at 8q12.3–13.1 contained miRN124A2 gene, whose product regulates MMP2 and CDK6. The 9p21.3 MCR harbored p16INK4A/p15INK4B locus which was deleted. On 17p11p13, the MCR contained several genes and TP53 was deleted in 2 cases. The MDM2 gene, a member of p16INK4A-ARF-p53 pathway, was amplified and overexpressed in one case. Among the other unique CNAs, gains harbored CCND1, KIT/PDGFRA/KDR, and JAK2. On the third part of this these, a high-resolution 244K aCGH was conducted on 60 frozen lung adenocarcinoma (AD) of never smokers patients in order to establish a catalog of CNA. In 50/60 tumors, fourteen new MCR of gain or loss was noted. One larger MCR of gain contained NSD1.One focal amplification and nine gains contained FUS. NSD1 and FUS are oncogenes hitherto not known to be associated with lung cancer. FUS was over-expressed in 10 tumors with gain of 16p11.2 compared to 30 tumors without that gain. A FUS hsr was observed with FISH screening. FUS was over-expressed in 10 tumors with gain of 16p11.2 compared to 30 tumors without that gain. Other cancer genes present in aberrations included ARNT, BCL9, CDK4, p15INK4B, EGFR, ERBB2, MDM2, MDM4, MET, MYC, NKX2-1 and KRAS
Gatto, Kaleb Pretto 1987. "Análise dos cromossomos sexuais de Pseudis tocantins (Anura, Hylidae)". [s.n.], 2013. http://repositorio.unicamp.br/jspui/handle/REPOSIP/317686.
Texto completoDissertação (mestrado) - Universidade Estadual de Campinas, Instituto de Biologia
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Mestrado
Biologia Celular
Mestre em Biologia Celular e Estrutural
Adhikari, Bishwo. "Genomic Analysis of Nematode-Environment Interaction". BYU ScholarsArchive, 2010. https://scholarsarchive.byu.edu/etd/2578.
Texto completoCatelani, Ana Lúcia Pereira Monteiro. "Variação no número de cópias de segmentos de DNA (CNV) em pacientes com surdez sindrômica". Universidade de São Paulo, 2010. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-28062010-123759/.
Texto completoHearing loss is the most common congenital deficiency and about 70 million people worldwide present some degree of hearing impairment. In addition to its high incidence, hearing loss impacts language, cognition and social and emotional development. However, in a large proportion of patients, the cause of the hearing deficiency cannot be elucidated. We screened copy number changes by 1 Mb-array Comparative Genomic Hybridization (aCGH) in 31 individuals with syndromic hearing impairment whose clinical features were untypical for known disorders. The choice of evaluating syndromic rather than non-syndromic individuals was based on the assumption that they are more likely to carry larger genomic alterations which could be more easily detected by the comparatively low resolution 1 Mb aCCG, which was the available platform when this project started. Copy number changes (CNV) not documented in the database of normal individuals were detected in eight patients, four de novo imbalances and four inherited from a normal parent. The de novo alterations define candidate chromosome segments likely to harbor dosage sensitive genes related to hearing impairment, namely 1q23.3-q25.2, 2q22q23, 6p25.3 and 11q13.2- q13.4. The rare imbalances also present in normal parents might be casually associated with hearing impairment, but also have a possible role as a predisposition factor. When only the de novo CNVs were considered causative for the disease phenotypes, our study revealed relevant copy number changes in 4 patients (13%). If we also count the rare CNVs that had been inherited as possibly causative, the frequency of chromosome imbalances associated with syndromic deafness in our sample becomes 26%. These figures are probably underestimates and will probably become larger when high resolution oligoarray platforms are applied. These results indicate that aCGH is an efficient tool for defining the etiology of syndromic deafness and its use in routine diagnosis of hearing impairment and for genetic counseling is highly recommended.
Yano, Cassia Fernanda. "Estudos evolutivos no gênero Triportheus (Characiformes, Triportheidae) com enfoque na diferenciação do sistema de cromossomos sexuais ZZ/ZW". Universidade Federal de São Carlos, 2016. https://repositorio.ufscar.br/handle/ufscar/8567.
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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
Triportheus genus (Characiformes, Triportheidae) presents a particular scenario 1 in fishes, with a ZZ/ZW sex chromosomes system for all species until now investigated. The Z chromosome is metacentric and the largest one of the karyotype, remaining morphologically conserved in all species. In contrast, the W chromosome differs in shape and size among species, from almost identical to markedly reduced in size in relation to the Z, with a clear heterochromatin accumulation associated with its differentiation process. This scenario in Triportheus, along with a well defined phylogeny for this group, provided an excellent opportunity to investigate the evolutionary events associated with the sex chromosomes differentiation, a matter of increasing interest to evolutionary biology in recent years. Therefore, the purpose of this study was to investigate the origin and differentiation of sex chromosomes in eight Triportheus species, using diverse conventional and molecular cytogenetics tools, such as C-banding, chromosomal mapping of rDNAs and several other repetitive DNA sequences, comparat ive genomic hybridization (CGH), microdissection of Z and W chromosomes and whole chromosome painting (WCP). The preferential accumulation of repetitive DNAs on the W chromosome highlighted the predominant participation of these sequences in the differentiation of this chromosome. Notably, the differential accumulation of microsatellites, and a hybridization pattern with no direct correlation to the ancestry of the W chromosome, put in evidence the particular evolutionary processes that shaped the sex-specific chromosome among species. The chromosomal mapping of 5S and 18S rDNAs and U2 DNAsn highlighted a very particular scenario in the distribution of these multigene families in Triportheus. Indeed, the variability in number of the rDNA sites on the autosomes, as well as the syntenic "status" of these three multigene families, showed their intense dynamism in the karyotype evolution, revealing a much more complex organization of these genes than previously supposed for closely related species. In addition, the occurrence of U2 DNAsn on the W chromosome of T. albus appears as an evolutionary novelty, while the occurrence of 18S rDNA in the Wq terminal region of all species pointed to a conserved condition for the genus, as well as a peculiarity in the evolutionary process of the W chromosome. Noteworthy, the use of WCP, and especially CGH experiments, put in evidence sequences which are shared by both Z and W chromosomes and sequences that are unique to each one. Thus, the Wq terminal region stood out with a high concentration of female specific sequences, in coincidence with the location of the 18S rDNA genes, allowing inferences about the origin of these cistrons on the sex-specific chromosome. Our data also showed that the ZZ/ZW system had, in fact, a common origin in Triportheus, considering the homologies found in chromosomal paintings using the Z and W probes. Triportheus auritus is the direct representative of the first lineage to differentiate in the genus and WCP experiments, using the Z chromosome probe of this species, have showed how this chromosome is notably conserved in all investigated species. On the other hand, the W chromosome showed variable patterns of homology among species, highlighting the molecular divergence emerged along its evolutionary history. In conclusion, the results obtained in this study allowed to certify the common origin of the ZZ/ZW sex system in Triportheus and to evaluate the intra- and inter-specific genomic homologies and differences between the sex pair, resulting in significant advances in the knowledge of the origin and differentiation of the sex chromosomes among lower vertebrates.
O gênero Triportheus (Characiformes, Triportheidae) apresenta um cenário 1 incomum entre os peixes, com a ocorrência de um sistema de cromossomos sexuais ZZ/ZW para todas as espécies já investigadas. O cromossomo Z é metacêntrico e o maior do cariótipo, permanecendo morfologicamente conservado em todas as espécies. Contrariamente, o cromossomo W apresenta formas variáveis e tamanhos distintos entre as espécies, podendo apresentar tamanho quase idêntico ao do cromossomo Z até acentuadamente reduzido em relação a ele, com um nítido acúmulo de heterocromatina associado ao processo de diferenciação desse cromossomo. Este cenário em Triportheus, juntamente com a filogenia já bem definida para este grupo, possibilitou uma oportunidade excelente para a investigação de eventos evolutivos associados aos cromossomos sexuais, aspecto este que vem despertando interesse crescente na biologia evolutiva nos últimos anos. Assim sendo, a proposta deste estudo foi investigar a origem e a diferenciação dos cromossomos sexuais em oito espécies de Triportheus, usando ferramentas diversificadas da citogenética convencional e molecular, como o bandamento-C, mapeamento cromossômico de DNAr e diversas outras classes de DNAs repetitivos, hibridização genômica comparativa (CGH), microdissecção dos cromossomos Z e W e pintura cromossômica total (WCP). O acúmulo preferencial de várias sequências de DNAs repetitivos no cromossomo W possibilitou destacar a participação preponderante deste componente do genoma na diferenciação do cromossomo sexo18 específico. Notadamente, o acúmulo diferencial de microssatélites colocou em evidência processos evolut ivos específicos do cromossomo W entre as espécies, bem como um padrão acumulativo que não apresenta correlação direta com a ancestralidade deste cromossomo. O mapeamento cromossômico do DNAr 5S e 18S e do DNAsn U2 evidenciou um cenário bastante particular na distribuição dessas famílias multigênicas em Triportheus. A variabilidade em relação ao número de sítios de DNAr nos autossomos, assim como o “status” sintênico dessas três famílias, evidenciaram o dinamismo evolutivo desses genes mesmo entre espécies proximamente relacionadas. Além disso, a ocorrência de DNAsn U2 no cromossomo W de T. albus evidenciou uma novidade evolutiva, enquanto a ocorrência de DNAr 18S na região Wq terminal confirmou uma condição conservada no gênero, assim como uma peculiaridade do processo evolut ivo do cromossomo W, visto que todas as espécies analisadas até o momento são portadoras dessas sequências. O emprego de WCP, e principalmente de CGH, possibilitou demonstrar a localização de sequências que são compartilhadas pelos cromossomos Z e W, bem como de sequências que são exclusivas de cada um deles. Assim, a região Wq terminal se destacou por apresentar uma grande concentração de sequências específicas de fêmeas, em coincidência com a localização do cluster de DNAr 18S, possibilitando inferências sobre a origem destes cístrons no cromossomo sexo-específico. Nossos dados também demonstraram que o sistema ZZ/ZW teve, de fato, uma origem comum em Triportheus, considerando as homologias encontradas nos mapeamentos cromossômicos com sondas dos cromossomos sexuais Z e W. Triportheus auritus é a espécie representante direta da primeira linhagem a se diferenciar no gênero e experimentos de WCP, utilizando a sonda do cromossomo Z desta espécie, mostrou que este cromossomo se encontra notavelmente conservado em todas as espécies investigadas. Por outro lado, o cromossomo W apresentou padrões variáveis de homologia entre as espécies, destacando divergências moleculares diferencialmente moldadas ao longo da sua história evolutiva. Em conclusão, os resultados obtidos no presente estudo possibilitaram atestar a origem comum do sistema ZZ/ZW em Triportheus, bem como avaliar divergências e similaridades genômicas intra- e interespecíficas quanto ao par sexual, obtendo-se avanços significativos no conhecimento da origem e diferenciação dos cromossomos sexuais entre os vertebrados inferiores.
CAPES: 11744/13–8
Ashton, Kevin John. "Genetic Aberrations in Non-Melanoma Skin Cancer". Thesis, Griffith University, 2002. http://hdl.handle.net/10072/367012.
Texto completoThesis (PhD Doctorate)
Doctor of Philosophy (PhD)
School of Health Sciences
Full Text
Mixão, Verónica de Pinho 1991. "Hybridization in Candida yeast pathogens". Doctoral thesis, Universitat Pompeu Fabra, 2020. http://hdl.handle.net/10803/670103.
Texto completoCandida spp. se encuentran entre los hongos patógenos más importantes. Candida albicans es la principal causante de infecciones por Candida, pero muchas otras especies del mismo género han emergido como patógenos. Los mecanismos evolutivos implicados en la adquisición de patogenicidad se desconocen, pero estudios precedentes apuntan a que la hibridación puede haber jugado un papel importante en este desarrollo. Esta tesis estudia las características genómicas de las especies patógenas del género Candida, centrándose en híbridos y su evolución. Específicamente, se analiza la presencia de híbridos entre las especies de Candida y se estudian los procesos que impulsan la evolución de sus genomas. Para ello, se analizaron y compararon los genomas de 141 cepas correspondientes a 13 especies con el propósito de reconstruir sus características genómicas y estudiar su evolución. En resumen, esta tesis respalda un papel importante de la hibridación en la aparición de nuevas levaduras patógenas y aporta nuevas ideas sobre las consecuencias evolutivas de dicha hibridación.
Michelland, Sylvie. "Déséquilibres génétiques dans les cancers bronchiques : une analyse par hybridation génomique comparative". Université Joseph Fourier (Grenoble), 1998. http://www.theses.fr/1998GRE10181.
Texto completoGiraud, Delphine. "Dynamique des éléments transposables et évolution du génome des spartines polyploïdes". Thesis, Rennes 1, 2019. http://www.theses.fr/2019REN1B057.
Texto completoWe explored the consequences of divergent speciation or reticulate evolution (resulting from hybridization) during diversification of the Spartina genus in the last 6-10 MY, based on the analysis of repeated sequences, their expression and regulation. Transposable element amounts, genome size, and phylogenetic relationships were found correlated, although differential dynamics of specific transposable element families or satellite sequences were encountered according to lineages, and to divergence times following the speciation events. The abundance of transposable elements appears related to their level of expression and the role of small RNAs in their control. This regulation is rapidly established following interspecific hybridization and explains the "genomic quiescence" (absence of transposable element “burst”) detected in the recent allododecaploid S. anglica. Annotations of transposable elements and small RNAs, new reference transcriptomes generated for different species during this work represent additional resources that will allow a more comprehensive exploration of the Spartina genome history and dynamics for a better understanding of the genomic mechanisms involved in the adaptation and ecology of these “ecosystem engineers” species
Williams, Stephen. "IDENTIFICATION OF LOCI CONTRIBUTING TO THE SMITH-MAGENIS SYNDROME-LIKE PHENOTYPE AND MOLECULAR EVALUATION OF THE RETINOIC ACID INDUCED 1 GENE". VCU Scholars Compass, 2010. http://scholarscompass.vcu.edu/etd/65.
Texto completoAshton, Kevin John y K. Ashton@griffith edu au. "Genetic Aberrations in Non-Melanoma Skin Cancer". Griffith University. School of Health Science, 2002. http://www4.gu.edu.au:8080/adt-root/public/adt-QGU20030818.122305.
Texto completoSuzuki, Keli Tieko. "Investigação molecular por sequenciamento do gene CBP em portadores da síndrome de Rubinstein-Taybi". Universidade de São Paulo, 2012. http://www.teses.usp.br/teses/disponiveis/5/5141/tde-24052012-154642/.
Texto completoRubinstein-Taybi syndrome (RTSs) is a rare autosomal dominant disease characterized by craniofacial dysmorphisms, broad thumbs and toes, mental and growth deficiency. RTS has been associated with CREBBP (CBP) gene mutations and less frequently with mutations in EP300 gene, which have been reported in eight individuals. CBP and p300 have high homology and are extremely important in many signaling pathways especially as transcriptional coactivators and histone acetylation. Our study was based on the alteration analysis by direct sequencing of the CBP, by FISH and array-CGH in 20 RTSs patients. We identified eight molecular alterations in 20 RTSs patients evaluated by direct sequencing: i) two deletions (p.M747fs STOP830 and p.G1011fs STOP1021) ii) two nonsense alterations (p.Arg1341X and p.Arg1498X) iii) Three missense alteration (p.Arg1907Trp, p.Leu604Pro and p.His1291Arg). Single-nucleotide polymorphism were also identified (rs115594471 / c.5874CT), and six of these are new molecular alterations, not described in literature. Two RTSs patients studied had CBP gene deletion in one allele, identified by array-CGH method. Other patient, presented with apparent balanced translocation t(2;16) in which the subsequent analysis using FISH, showed a break in region of CBP. In this work, the rate of detection of molecular alteration in CBP by direct sequencing in RTSs patient was 40.0% (08/20). However, the rate of detection of molecular alteration in CBP was 55.0% (11/20), considering the combination of different techniques (FISH, direct sequencing and array-CGH. No significant correlation could be established in this study between the different types of mutations and genotype-phenotype of RTSs patients, except a higher frequency of the presence of epicanthus in the RTS patients with alteration in the CBP. The results of this study serve as a molecular diagnosis for RTSs patients treated at the Ambulatory of the Medical Investigation Laboratory 001 (ALIM 001) of the Instituto da Criança - FMUSP, and this contributes to better clinical management, such as making an appropriate genetic counseling for families
Liu, Iris. "Comparative genome hybridization reveals widespread genome variation in pathogenic cryptococcus species". Thesis, University of British Columbia, 2008. http://hdl.handle.net/2429/5646.
Texto completoEulálio, Inês Mariana Cardoso. "Developmente of a CNVs detection method through qPCR". Master's thesis, Universidade de Aveiro, 2017. http://hdl.handle.net/10773/22507.
Texto completoOs copy number variations (CNVs) consistem em segmentos de DNA de uma kilobase ou mais, que se encontram num número variável de cópias, em comparação com um genoma de referência. A deteção de CNVs é convencionalmente realizada através de técnicas de citogenética, como fluorescence in situ hybridization e array comparative genomic hybridization, ou com base em PCR, como multiplex ligation-dependent probe amplification, SNP arrays ou deep sequencing. Porém, a evolução da técnica de PCR quantitativo em tempo real (qPCR) permitiu que fosse, actualmente, considerada o método gold standard para a detecção de CNVs devido, sobretudo, ao elevado rendimento, sensibilidade, precisão e versatilidade. O presente trabalho descreve o desenvolvimento e validação de um método de deteção de CNVs através da técnica de qPCR. A metodologia adotada provou ser um método preciso e sensível para a detecção de CNVs em regiões específicas.
Copy number variations (CNVs) consist in DNA segments of one kilobase or larger, that are present in variable copy number, in comparison to a reference genome. CNVs detection is conventionally performed through cytogenetic, such as fluorescence in situ hybridization and array comparative genomic hybridization, or PCR-based techniques, like multiplex ligation-dependent probe amplification, SNP arrays or deep sequencing. However, the evolution of quantitative PCR (qPCR) allows it to be considered the gold standard for CNVs detection, mainly due to its high throughput, precision and versatility. The present work describes the development and validation of a qPCR method for CNVs detection. This method proved to be an accurate and sensitive method for CNVs detection in targeted regions.
Berglund, Mattias. "Molecular Characterization of Diffuse Large B-cell Lymphoma and Aspects of Transformation". Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2004. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4266.
Texto completoSerson, William Richard. "INCREASING RENEWABLE OIL CONTENT AND UTILITY". UKnowledge, 2017. http://uknowledge.uky.edu/pss_etds/89.
Texto completoKincaid, Smith Julien. "Modification des traits d'histoire de vie au cours de l’hybridation et analyse des mécanismes moléculaires sous- jacents chez les parasites plathelminthes du genre Schistosoma". Thesis, Perpignan, 2018. http://www.theses.fr/2018PERP0028/document.
Texto completoGlobal changes contribute in modifying species geographical distribution. New interactions between species that have never been in contact before can potentially lead to atypical cases of reproduction, including hybridization. This phenomenon can have strong epidemiological consequences as it can potentially lead to the genesis of hybrid pathogens. The combination of genetic material of distinct species can confer increased capacities to the offspring (hybrid vigor or heterosis), eventually leading to adaptive changes and the emergence of pathogens in non-endemic areas, making them an emerging global threat. This thesis work focuses on schistosomiasis, the second human parasitic disease after malaria and its recent emergence in Europe (Corsica, France). After the identification and genomic characterization of a hybrid parasite between two distinct agents of the disease, S. haematobium in humans and S. bovis in cattle, we conducted an integrative approach to characterize at several scales the invasive capacities and virulence of such parasites. Starting from the field, we set up an experimental evolution protocol aimed at generating first- and second-generation hybrids in the laboratory. We analysed life history trait modifications of these parasites as well as the molecular consequences (genomics and transcriptomics) of this "genomic clash" and we show that hybridization can be a major evolutionary force for parasites
Aguiar, Simone dos Santos. "Pesquisa da amplificação e/ou deleção genica atraves da tecnica de hibridização genomica comparativa (CGH) e da leção dos genes P53 e RB1 atraves da tecnica de hibridação in situ fluorescente (FISH) no tecido do tumor de crianças e adolescentes com ost". [s.n.], 2006. http://repositorio.unicamp.br/jspui/handle/REPOSIP/312071.
Texto completoTese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas
Made available in DSpace on 2018-08-06T21:43:20Z (GMT). No. of bitstreams: 1 Aguiar_SimonedosSantos_D.pdf: 43958145 bytes, checksum: b9dafbbd99ad0e567b3c1f03a0c7b37e (MD5) Previous issue date: 2006
Resumo: Introdução Os osteossarcomas (OS) são tumores agressivos, primários de osso, com prognóstico reservado. As deleções dos genes supressores de tumor, RBl e P53, localizados nos cromossomos 13 e 17 respectivamente, são freqüentemente encontradas neste tipo de tumor. As alterações citogenéticas encontradas nos OS são de alta complexidade, porém nenhuma delas é recorrente, não podendo caracterizá-lo. A técnica da Hibridização Genômica Comparativa (CGH) é uma ferramenta muito precisa para o estudo das deleções e amplificações gênicas ocorridas neste tumor. Materiais e Métodos. Tecido tumoral de 41 crianças com OS foi analisado pela técnica de CGH para pesquisar possíveis ganhos e/ou perdas gênicas . A técnica da Hibridização In Situ Fluorescente (FISH) foi realizada para estudar as deleções dos genes P53 e RBl. Vinte e quatro pacientes eram do sexo feminino e 17 do sexo masculino, com mediana de 12 anos e 4 meses. Resultados. As anormalidades cromossômicas observadas com a técnica de CGH foram diversas e variadas, especialmente ganhos nos cromossomos lp, 2p, 3q, 5q,5p e 6p e, perdas nos cromossomos 14q (50% no - 14q 11.2), 15q e 16p. Alto índice de perdas foi observado no cromossomo 21 (26 de 41 casos; p=0,008), sendo a região mais freqüentemente afetada a 21ql 1.2. Com relação ao estudo dos supressores tumorais, a deleção do P53 ocorreu em 68,3% dos casos (p=0,02) e do RBl em 87,5% dos casos (p=0,000001). Conclusão. Apesar de ambos supressores (PS3 e RBl) estarem deletados na maioria dos pacientes, este evento parece não estar associado ao prognóstico. Anormalidades ainda não reportadas presentes no cromossomo 21 nos OS pediátricos, sugerem que a seqüência mapeada nesta região cromossômica possa estar envolvida na patogênese deste tumor
Abstract: Background. Osteosarcomas (OS) are aggressive bone tumors and often have a poor prognosis. It is already known that abnormalities in chromosomes 13 and 17 are frequently observed in OS patients, being also expected a deletion of RBI and P53 genes. The tumors exhibit karyotypes with a high degree of complexity, that has made it difficult to determine if any recurrent chromosomal aberrations could characterize OS. To address inherent difficulties associated with classical cytogenetic analysis, comparative genomic hybridization (CGH) has been applied to OS tissue. Patients and Methods. Forty one pediatric OS specimens were analyzed by CGH techniques, and the expression of RBI and P53 were analyzed by FISH . Twenty four patients were girls and 17 boys. Median age was 12 years and 4 months.Results. Chromosomal abnormalities were highly diverse and variable specially gains in chromosome lp, 2p, 3q, 5q , 5p and 6p and losses in chromosome 14q (50% in - 14q 11.2), 15q and 16p. High level of losses in chromosome 21 were present (26 of 41 cases; p-0,008), being 21 q 11.2 region the most frequent one. Concerning about genes expression, P53 is deleted in 68,3% of the cases (p=0,02) and RBI in 87,5% (p=0,000001) .Conclusion. Although both oncogenes (P53 and RBI) are deleted in OS population, it remains impossible to determine if this abnormality is a prognostic factor. These new and unreported findings in chromosome 21 of pediatric OS tumors, suggest that specific sequences mapping these chromosomal regions, would likely to play a role in the development of OS
Doutorado
Pediatria
Mestre em Saude da Criança e do Adolescente
Baumgartner, Adolf. "Comparative genomic hybridization (CGH) in genotoxicology". 2013. http://hdl.handle.net/10454/10121.
Texto completoIn the past two decades comparative genomic hybridization (CGH) and array CGH have become crucial and indispensable tools in clinical diagnostics. Initially developed for the genome-wide screening of chromosomal imbalances in tumor cells, CGH as well as array CGH have also been employed in genotoxicology and most recently in toxicogenomics. The latter methodology allows a multi-endpoint analysis of how genes and proteins react to toxic agents revealing molecular mechanisms of toxicology. This chapter provides a background on the use of CGH and array CGH in the context of genotoxicology as well as a protocol for conventional CGH to understand the basic principles of CGH. Array CGH is still cost intensive and requires suitable analytical algorithms but might become the dominating assay in the future when more companies provide a large variety of different commercial DNA arrays/chips leading to lower costs for array CGH equipment as well as consumables such as DNA chips. As the amount of data generated with microarrays exponentially grows, the demand for powerful adaptive algorithms for analysis, competent databases, as well as a sound regulatory framework will also increase. Nevertheless, chromosomal and array CGH are being demonstrated to be effective tools for investigating copy number changes/variations in the whole genome, DNA expression patterns, as well as loss of heterozygosity after a genotoxic impact. This will lead to new insights into affected genes and the underlying structures of regulatory and signaling pathways in genotoxicology and could conclusively identify yet unknown harmful toxicants.
Santos, André Ferreira. "Development of a Database for Array Comparative Genomic Hybridization". Master's thesis, 2015. http://hdl.handle.net/10316/30808.
Texto completoA técnica de Microarray de Hibridização Genómica Comparativa (arrayCGH) permitiu um avanço significativo no diagnóstico de doenças de desenvolvimento incompreensíveis através da deteção de variações do número de cópia genómicas (CNVs) que antes eram indetetáveis por outros tipos de tecnologias citogenéticas. Através desta técnica são detetadas síndromes genéticas já identificadas mas também novos distúrbios e novas doenças genómicas causadas por CNVs. A avaliação da patogenicidade das CNVs detetadas por arrayCGH está direta ou indiretamente relacionada com a consulta de CNVs previamente classificadas e arquivadas. Quando é detetada uma CNV anteriormente não observada, os clínicos tem de interpretar uma variação de significado clínico incerto (VOUS) o que pode ser muito complicado para eles. No entanto, a partilha de CNVs classificadas entre laboratórios pode ajudar quando uma variação destas aparece, de modo a poder classificá-la como benigna ou patogénica. Guardar, consultar e partilhar informação sobre CNVs de uma forma fácil é muito importante para os clínicos e para os laboratórios de modo a que estes possam fazer um diagnóstico correto dos seus pacientes. Neste trabalho é apresentado o desenvolvimento de uma base de dados, usando a tecnologia LAMP (Linux, Apache, MySQL e PHP), para guardar registos de arrayCGH e para dar aos clínicos laboratoriais uma interface para consultar e gerir CNVs.
Chen, Hung-I. Harry y 陳鴻毅. "Development of a Normalization Algorithm for Array Comparative Genomic Hybridization". Thesis, 2007. http://ndltd.ncl.edu.tw/handle/86066366982034436673.
Texto completo國立臺灣大學
電機工程學研究所
95
Genomic instability is one of fundamental factors in tumorigenesis and tumor progression. Many studies have shown that copy-number abnormalities at the DNA level are important in the pathogenesis of cancer. Array Comparative Genomic Hybridization (array CGH), developed based on expression microarray technology, can reveal the chromosomal aberrations in segmental copies at a high-resolution. However, due to the nature of array CGH, many standard expression data processing tools, such as data normalization, often failed to yield satisfactory results. We demonstrate a novel array CGH normalization algorithm, which provides an accurate array CGH data normalization by utilizing the dependency of neighboring probe measurements in array CGH experiments. To facilitate the study, we have developed a Hidden Markov Model (HMM) to simulate a series of array CGH experiments with random DNA copy number alterations that can be used to validate the performance of our normalization. In addition, we applied our algorithm to normalize real data from an array CGH study of CL1-0, CL1-1 and CL1-5 cell lines. CL1-0, CL1-1 and CL1-5 are closely related lung cancer cell lines which are classified according to their differential invasiveness. The normalization made significant improvement over data quality and enhanced the reliability of experimental results. By using this newly developed algorithm, the normalized data showed distinct patterns of DNA copy number alternations among those lung cancer cell lines. Finally, based on this new development; we are establishing a user-friendly web-based system to provide convenient online array CGH data analysis.
Chen, Hung-I. Harry. "Development of a Normalization Algorithm for Array Comparative Genomic Hybridization". 2007. http://www.cetd.com.tw/ec/thesisdetail.aspx?etdun=U0001-1007200716470300.
Texto completoLIN, YI CHAO y 林宜昭. "Analysis of chromosomal aberration in pancreatic carcinoma by comparative genomic hybridization". Thesis, 2005. http://ndltd.ncl.edu.tw/handle/49141080339263080109.
Texto completo長庚大學
基礎醫學研究所
93
The mortality of pancreatic cancer in male is the ninth leading cause of cancer death during year 2003 in Taiwan, and that in female ranks eighth. In order to develop the new diagnostic, therapeutic and preventive methods of the disease, we ought to define the progression of the tumorigenesis mechanism of the cancer. However, what we know about the genetic mechanism of the disease is not enough. Hruban et al. (2000) proposed the genetic progression model for pancreatic intraepithelial neoplasias. It involved a set of genetic variations. The complicated copy number amplification and deletion in particular regions of chromosomes were difficult to detect with usual methods. Therefore, we used comparative genomic hybridization (CGH) to define the variant regions of chromosomes in pancreatic cancers, and tried to define the tumor suppressor genes and oncogenes involved. Twenty-three cases of pancreatic cancer were collected, including 16 cases of pancreatic ductal adenocarcinoma, 4 cases of endocrine carcinoma, a case of acinar cell carcinoma, and 2 cases of mucinous adenocarcinoma. After CGH analyses to the 23 cases the copy number abnormality showed that the gain occured in 14 cases (61%) at chromosomes 13q, in 13 cases (57%) at each of 7p, 8q and 14p, in 12 cases (52%) at each of 5q, 13p, 19p and 21p, in 11 cases (48%) at each of 1q, 5p, 6p and 11p, and the loss in 6 cases (26%) at chromosome 16q and 18q, and in 5 cases (22%) at 1p. We also noticed among 16 cases of pancreatic ductal adenocarcinoma, that the copy number gain occurred in chromosomes 8q (63%), 13q, 14p (56%), 1q, 5q, 7p, 11q, 13p and 21p (50%), and loss in chromosomes 18q (31%) and 16q (25%). Also, in 3 among 4 cases of endocrine carcinoma it showed the gain at chromosome 6q. The results imply that the particular type of tumor may be related to the certain genomic aberration in the identified specific regions. Further investigation with the array CGH, which increases the resolution in detecting the particular regions of chromosomes, may facilitate the understanding of the specific genes that may be involved. It can be then analyzed in correspondence with the various stages of the tumors, and the tumorigenesis progression of pancreatic carcinoma.
Lin, Yu-Shu y 林育澍. "An Integration of Statistical Methods for Array-based Comparative Genomic Hybridization". Thesis, 2006. http://ndltd.ncl.edu.tw/handle/71870029541893742750.
Texto completo國立臺灣大學
農藝學研究所
94
The DNA microarray is widely used to investigate gene expression profiles of many thousands of genes simultaneously. And it has become a common tool for exploring various questions in many areas of biological and medical sciences. Specifically, array-based comparative genomic hybridization (Array CGH) is applied to screen alteration of DNA copy numbers genomewide. The main purpose of such application is to detect the altered DNA segments among genome sequences from a control (reference) treatment to a test treatment. Typically, efficient statistical tools are developed to compare the intensity ratios of spots representing the competitive hybridization between the control mRNA sample and the test mRNA sample, which are separately labeled with red (Cy5) and green (Cy3) fluorescence dyes. Users usually focus on the gain region and the loss region on each chromosome. In consequence, the differentially altered regions are displayed by graphical plots. From the simulation results presented in Lai et al. (2005), several competing statistical methods are selected for analysis of Array CGH data, including Adaptive Weights Smoothing method, Circular Binary Segmentation method and CGH Segmentation method. Furthermore, we use Perl, PHP programming language and Apache web server to integrate the chosen statistical methods into an analysis platform under R language environment. The proposed platform offers normalization, identification of the differentially altered regions and plotting of the gain and loss regions genomewide. In addition, users can annotate information through UCSC Genome Browser and ID Converter for advanced analyses.
Freitas, Marta Catarina Baptista. "Prenatal diagnosis: the clinical usefulness of Array Comparative Genomic Hybridization (aCGH)". Master's thesis, 2017. https://hdl.handle.net/10216/104446.
Texto completoFreitas, Marta Catarina Baptista. "Prenatal diagnosis: the clinical usefulness of Array Comparative Genomic Hybridization (aCGH)". Dissertação, 2017. https://hdl.handle.net/10216/104446.
Texto completoLai, Jiunn-Jei y 賴俊吉. "Study of Chromosomal Aberrations in Nasal Lymphoma By Comparative Genomic Hybridization Technique". Thesis, 2000. http://ndltd.ncl.edu.tw/handle/19102033855476926703.
Texto completo國立陽明大學
遺傳學研究所
88
Nasal lymphoma (nasal and nasal type T/NK cell lymphoma) is the most aggressive kind of lymphoma. It was most often occurred in nose or facial midline. And it is highly associated with Epstein Barr Virus. The incidence of nasal lymphoma in Asian and Native American are much higher than that of Caucasian. There are about three forth cases occurred in male. Besides, the prognosis of nasal lymphoma was very poor, and there was highly rate of relapse. Because of these reasons, we are interest in analyzing how it happens. Here, we want to realize the cytogenetics of nasal lymphoma by using the CGH (Comparative Genomic Hybridization) technique to achieve it. The principle of CGH technique is that labeling the equal amount DNA of cancer cells and that of normal cells with different fluorescence dye, and then hybridizing to normal metaphase chromosomes on the slide at the same time. By analyzing the ratio of fluorescence on metaphase chromosomes, we can realize that are there any gain or loss segments of DNA of cancer cells in chromosomes. And there were most likely oncogenes or tumor suppressor genes in these gain or loss segments. We analyzed 17 cases DNA of nasal lymphoma from NCKU, and one cell line -- HANK1 (offered by Dr. Kagami in Japan) by using CGH. The result indicated that the mainly chromosomal aberration is gain in X chromosome (29.4%). There were few researches done about chromosomal aberrations of nasal lymphoma before, and they were using conventional cytogenetic technique (karyotyping). The results have a common finding that the loss of chromosome 6q21-25 segment in the chromosomal aberrations of nasal lymphoma, but it did not appear in our CGH results. The X chromosomal aberrations are the common findings both in researches using earlier cytogenetic technique and our CGH experiments. Is there any oncogene or tumor suppressor gene on X chromosome? This is a good question for further research.
Chen, Ming-Chih y 陳明志. "Investigation on the People’s Willingness to Using the array-Comparative Genomic Hybridization". Thesis, 2013. http://ndltd.ncl.edu.tw/handle/80244000447158336128.
Texto completo育達商業科技大學
行銷與流通管理所
101
Taiwan has been a highly developed country, where low birth rate has become an increasingly apparent phenomenon. More and more people choose not to have children, or insist on the spirit that one child is just enough and only have one child. In the trend of late marriage and late childbirth, middle and advanced maternal age has been quite common. However, the risk of preterm birth or congenital disease also increases with the age of women at childbirth. According to medical statistics, 4 in 100 newborns have birth defects in Taiwan, and it is estimated that more than 5000 babies with congenital abnormalities are born every year. Based on the concept of genetic health and the consideration of perfect fetus, array-Comparative Genomic Hybridization (aCGH) with higher resolution than that of traditional chromosome inspection technology, a new type of prenatal genome detection technology, can rely on chromosome chip inspection to make up for the deficiency in traditional chromosome inspection after first excluding possibility of these problems regarding clinical commonly known congenital abnormal genes, difficulty in detecting chromosome deficiency diseases in tiny fragments by traditional chromosome inspection technology, and even awareness of developmental retardation after birth. This study mainly took the Health Belief Model (HBM) as the theoretical basis to investigate the usage intention of the public on chromosome chip inspection and its influencing factors. A questionnaire survey was made among 430 pregnant couples attending mother class or undergoing prenatal examination in department of obstetrics and gynecology. With invalid questionnaires removed, 372 effective ones were obtained, and the recovery rate was 86.5%. The study found that the public’s knowledge of chromosome chip inspection, perceived susceptibility and cues to action have positive effects on usage intention, and perceived barriers have negative effects on usage intention. Finally, it is suggested that government, enterprises and philanthropic organizations should cooperate in establishing perfect prenatal examination items and providing enough health resources for the public, so as to reduce the incidence of congenital malformation and make the concept of genetic health and the wish of perfect fetus come true in every family.
"Identification of genetic abnormalities in nasopharyngeal carcinoma by comparative genomic hybridization and interphrase cytogenetics". 1999. http://library.cuhk.edu.hk/record=b5889980.
Texto completoThesis (M.Phil.)--Chinese University of Hong Kong, 1999.
Includes bibliographical references.
Abstracts in English and Chinese.
Acknowledgements --- p.i
Abstract --- p.ii
List of Tables --- p.vii
List of Figures --- p.viii
List of Abbreviations --- p.x
Table of Contents --- p.xi
Chapter Chapter 1 --- Introduction
Chapter 1.1 --- Nasopharyngeal Carcinoma --- p.1-1
Chapter 1.1.1 --- Histology of NPC --- p.1-1
Chapter 1.1.2 --- Etiological Factors --- p.1-2
Chapter 1.1.3 --- Genetic Changes in NPC --- p.1-5
Chapter 1.2 --- Background of Present Study --- p.1-14
Chapter 1.3 --- Aims of Study --- p.1-15
Chapter Chapter 2 --- Comparative Genomic Hybridization and Fluorescence In- Situ Hybridization
Chapter 2.1 --- Introduction --- p.2-1
Chapter 2.2 --- Fluorescence In-Situ Hybridization (FISH) --- p.2-2
Chapter 2.2.1 --- Principle of FISH --- p.2-2
Chapter 2.2.2 --- Applications of FISH --- p.2-2
Chapter 2.2.3 --- Advantages and Limitations --- p.2-5
Chapter 2.3 --- Comparative Genomic Hybridization (CGH) --- p.2-7
Chapter 2.3.1 --- Principle of CGH --- p.2-7
Chapter 2.3.2 --- Applications of CGH --- p.2-8
Chapter 2.3.3 --- Advantages and Limitations --- p.2-10
Chapter 2.4 --- Method of CGH --- p.2-13
Chapter 2.4.1 --- CGH Probe Preparation --- p.2-13
Chapter 2.4.2 --- CGH Template Preparation --- p.2-21
Chapter 2.4.3 --- Hybridization --- p.2-23
Chapter 2.4.4 --- Post-hybridization --- p.2-23
Chapter 2.4.5 --- Fluorescence Detection --- p.2-24
Chapter 2.4.6 --- Image Acquisition and Analysis --- p.2-24
Chapter 2.5 --- Method of Interphase FISH --- p.2-29
Chapter 2.5.1 --- FISH Probe Preparation --- p.2-29
Chapter 2.5.2 --- FISH Template Preparation --- p.2-29
Chapter 2.5.3 --- Hybridization --- p.2-30
Chapter 2.5.4 --- Post-hybridization --- p.2-30
Chapter 2.5.5 --- Fluorescence Detection --- p.2-30
Chapter 2.5.6 --- Scoring of FISH Signals --- p.2-31
Chapter 2.5.7 --- Threshold Determination --- p.2-31
Chapter Chapter 3 --- FISH Studies on NPC Biopsies Guided by CGH Information Derived from Cell Lines and Xenografts
Chapter 3.1 --- Introduction --- p.3-1
Chapter 3.2 --- Materials and Methods --- p.3-3
Chapter 3.2.1 --- CGH Analysis --- p.3-3
Chapter 3.2.2 --- Interphase FISH Analysis --- p.3-4
Chapter 3.2.3 --- Statistical Analysis --- p.3-7
Chapter 3.3 --- Results
Chapter 3.3.1 --- CGH --- p.3-9
Chapter 3.3.2 --- Interphase FISH Analysis --- p.3-10
Chapter 3.3.3 --- Statistical Analysis --- p.3-11
Chapter 3.4 --- Discussion --- p.3-27
Chapter 3.4.1 --- CGH --- p.3-27
Chapter 3.4.2 --- Interphase FISH Analysis --- p.3-31
Chapter 3.5 --- Summary of This Chapter --- p.3-36
Chapter Chapter 4 --- CGH Studies on Universally Amplified DNA from Microdissected NPC Biopsies and Interphase FISH Analysis
Chapter 4.1 --- Introduction --- p.4-1
Chapter 4.2 --- Materials and Methods --- p.4-4
Chapter 4.2.1 --- CGH on Universally Amplified DNA --- p.4-4
Chapter 4.2.2 --- Interphase FISH Analysis --- p.4-6
Chapter 4.2.3 --- Statistical Analysis --- p.4-8
Chapter 4.3 --- Results --- p.4-9
Chapter 4.3.1 --- CGH on Universally Amplified DNA --- p.4-9
Chapter 4.3.2 --- Interphase FISH Analysis --- p.4-10
Chapter 4.3.3 --- Statistical Analysis --- p.4-11
Chapter 4.3.4 --- Comparison of CGH and FISH Findings --- p.4-11
Chapter 4.4 --- Discussions --- p.4-30
Chapter 4.4.1 --- CGH Findings --- p.4-30
Chapter 4.4.2 --- Interphase FISH Analysis --- p.4-41
Chapter 4.4.3 --- Comparison of CGH and FISH Findings --- p.4-43
Chapter 4.5 --- Summary of This Chapter --- p.4-45
Chapter Chapter 5 --- Conclusion and Further Studies
Chapter 5.1 --- Conclusion --- p.5-1
Chapter 5.2 --- Further Studies --- p.5-3
Chapter 5.2.1 --- Combination of Microdissection --- p.5-3
Chapter 5.2.2 --- Multicolor Karyotyping --- p.5-3
Chapter 5.2.3 --- Microarrays --- p.5-4
References --- p.R-1
"Chromosomal aberrations in hepatocellular carcinoma: a study by comparative genomic hybridization and interphase cytogenetics". 2000. http://library.cuhk.edu.hk/record=b5890480.
Texto completoThesis submitted in: December 1999.
Thesis (M.Phil.)--Chinese University of Hong Kong, 2000.
Includes bibliographical references (leaves [106]-116).
Abstracts in English and Chinese.
Abstract (in English) --- p.i
Abstract (in Chinese) --- p.iii
Acknowledgements --- p.v
Table of Contents --- p.vi
List of Figures --- p.ix
List of Tables --- p.x
Abbreviations --- p.xi
Chapter Chapter 1 --- Introduction --- p.1
Chapter 1.1 --- Hepatocellular Carcinoma (HCC) --- p.2
Chapter 1.2 --- Etiology of Hepatocellular Carcinoma --- p.5
Chapter 1.2.1 --- Viral Infection --- p.5
Chapter 1.2.1.1 --- Hepatitis B Virus --- p.5
Chapter 1.2.1.2 --- Hepatitis C Virus --- p.7
Chapter 1.2.2 --- Cirrhosis and Chronic Inflammation --- p.8
Chapter 1.2.3 --- Aflatoxin --- p.9
Chapter 1.3 --- Genetic Studies of Hepatocellular Carcinoma --- p.9
Chapter 1.3.1 --- Conventional Cytogenetics --- p.9
Chapter 1.3.2 --- Molecular Cytogenetics --- p.12
Chapter 1.3.3 --- Molecular Genetic Studies --- p.12
Chapter 1.3.3.1 --- Proto-oncogenes --- p.12
Chapter 1.3.3.2 --- Tumour Suppressor Genes --- p.13
Chapter 1.3.3.3 --- Cell Cycle Genes --- p.14
Chapter 1.4 --- Background of Study --- p.16
Chapter 1.5 --- Objectives of Study --- p.17
Chapter Chapter 2 --- Material and Methods --- p.18
Chapter 2.1 --- Materials --- p.19
Chapter 2.2 --- Analysis of Chromosomal Imbalances by Comparative Genomic Hybridization --- p.23
Chapter 2.2.1 --- Comparative Genomic Hybridization --- p.23
Chapter 2.2.2 --- Methods
Chapter 2.2.2.1 --- Preparation of Normal Metaphases --- p.30
Chapter 2.2.2.2 --- Extraction of High Molecular Weight DNA --- p.30
Chapter 2.2.2.3 --- Labeling of DNA by Nick Translation --- p.31
Chapter 2.2.2.4 --- Labeling Efficiency --- p.31
Chapter 2.2.2.5 --- Preparation of Probe --- p.33
Chapter 2.2.2.6 --- Hybridization --- p.33
Chapter 2.2.2.7 --- Washing and Detection of Signals --- p.35
Chapter 2.2.2.8 --- Image Acquisition and Analysis --- p.35
Chapter 2.2.2.9 --- Control Experiments --- p.36
Chapter 2.3 --- Positional Mapping of Novel Amplicon by Interphase Cytogenetics --- p.39
Chapter 2.3.1 --- Fluorescence in situ Hybridization --- p.39
Chapter 2.3.2 --- Using Yeast Artificial Chromosomes (YAC) as Probe --- p.41
Chapter 2.3.3 --- Methods --- p.48
Chapter 2.3.3.1 --- Culture of Yeast Artificial Chromosomes --- p.48
Chapter 2.3.3.2 --- Extraction of Total YAC DNA --- p.48
Chapter 2.3.3.3 --- Verification of YAC Clones for Chimerism by FISH --- p.49
Chapter 2.3.3.4 --- Inter-Alu-PCR --- p.49
Chapter Chapter 3 --- Assessment of Genetic Changes in HCC by Comparative Genomic Hybridization (CGH) --- p.57
Chapter 3.1 --- Introduction --- p.58
Chapter 3.2 --- Materials and Methods --- p.58
Chapter 3.2.1 --- Patients and Specimens --- p.58
Chapter 3.2.2 --- Comparative Genomic Hybridization --- p.60
Chapter 3.2.3 --- Statistical Analysis --- p.60
Chapter 3.3 --- Results --- p.61
Chapter 3.3.1 --- Overall Copy Number Aberrations in 67 HCC and Surrounding Cirrhotic Tissues --- p.61
Chapter 3.3.2 --- TNM Staging --- p.61
Chapter 3.3.3 --- Tumour Size --- p.72
Chapter 3.3.4 --- Serum AFP Elevation --- p.72
Chapter 3.3.5 --- Chromosomal Aberrations in HCC arising from Cirrhotic and Non- cirrhotic Livers --- p.72
Chapter 3.4 --- Discussion --- p.73
Chapter 3.4.1 --- Recurrent Gains --- p.73
Chapter 3.4.2 --- Recurrent Losses --- p.75
Chapter 3.4.3 --- Tumour Progression --- p.76
Chapter 3.5 --- Conclusion --- p.78
Chapter Chapter 4 --- Positional Mapping of a Novel Amplicon on Chromosome 1q21-q25 by Interphase Cytogenetics --- p.79
Chapter 4.1 --- Introduction --- p.80
Chapter 4.2 --- Materials --- p.82
Chapter 4.3 --- Methods --- p.82
Chapter 4.3.1 --- Preparation of Paraffin-embedded Tissue Sections --- p.82
Chapter 4.3.2 --- Verification of YAC Probes for Chimerism --- p.83
Chapter 4.3.3 --- Hybridization Efficiency of Test and Reference Probes --- p.83
Chapter 4.3.4 --- Slide Pretreatment and FISH with YAC Probes --- p.88
Chapter 4.3.5 --- Scoring of FISH Signals --- p.88
Chapter 4.4 --- Results --- p.89
Chapter 4.4.1 --- Relative Copy Number Gain --- p.89
Chapter 4.4.2 --- Intratumour Heterogeneity --- p.90
Chapter 4.5 --- Discussion --- p.90
Chapter 4.6 --- Further Studies --- p.104
Chapter 4.6.1 --- Fine Mapping of Chromosomal Region 1 q21 --- p.104
Chapter 4.6.2 --- Isolation of Novel Genes in the Amplicon --- p.105
Chapter 4.6.3 --- Expression Status of the EDC Genes --- p.105
References --- p.106