Dissertations / Theses on the topic 'Human chromosomes'
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Downie, Sarah Elizabeth. "Detection of chromosomes and chromosomal abnormalities in human sperm." Title page, contents and overview only, 1999. http://web4.library.adelaide.edu.au/theses/09PH/09phd751.pdf.
Full textVásárhelyi, Krisztina. "Statistical study of human constitutional chromosome rearrangement breakpoint distributions." Thesis, University of British Columbia, 1990. http://hdl.handle.net/2429/29201.
Full textMedicine, Faculty of
Medical Genetics, Department of
Graduate
Kulharya, Anita S. (Anita Singh). "Cytogenetics of chromosome 22 and its clinical relevance." Thesis, University of North Texas, 1990. https://digital.library.unt.edu/ark:/67531/metadc798385/.
Full textHeller, Raoul. "Engineering of human artificial mini-chromosomes." Thesis, University of Oxford, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.360317.
Full textRoss, Mark T. "Molecular studies of the human sex-chromosomes." Thesis, University of Oxford, 1990. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.258353.
Full textBhatt, Samarth. "Segregation analysis of paracentric inversions in human sperm." Montpellier 1, 2008. http://www.theses.fr/2008MON1T002.
Full textDunn, Alison M. "Cloning of human DNA repair genes." Thesis, University of Oxford, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.301385.
Full textCoultas, Susan L. (Susan Lynette). "A comparison of straight-stained, Q-stained, and reverse flourescent-stained cell lines for detection of fragile sites on the human X chromosome." Thesis, North Texas State University, 1985. https://digital.library.unt.edu/ark:/67531/metadc798127/.
Full textLaval, S. H. "Molecular analysis of mammalian sex chromosomes." Thesis, University of Oxford, 1991. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.302954.
Full textMandegar, Mohammad Ali. "Analysis of artificial chromosomes in human embryonic stem cells." Thesis, University of Oxford, 2011. http://ora.ox.ac.uk/objects/uuid:81d118c3-dd01-40e4-9fea-2c335d9f3101.
Full textChan, David Yiu Leung. "Analysis of artificial chromosomes and factors affecting stability in murine and human cultured and embryonic stem cells." Thesis, University of Oxford, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.568074.
Full textNelson, Tanya N. "Molecular genetic analysis of human 8p inversion duplication chromosomes." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1998. http://www.collectionscanada.ca/obj/s4/f2/dsk2/ftp02/NQ34598.pdf.
Full textKvaloey, Kirsti. "The long arm telomeres of the human sex chromosomes." Thesis, University of Oxford, 1993. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.358686.
Full textFraser, Neil J. "Molecular studies of the human x and y chromosomes." Thesis, University of Oxford, 1987. http://ora.ox.ac.uk/objects/uuid:e22e64bb-64e5-4474-86e2-1c3d5eb6155a.
Full textShemilt, L. A. "Coherent diffraction imaging and ptychography of human metaphase chromosomes." Thesis, University College London (University of London), 2014. http://discovery.ucl.ac.uk/1455381/.
Full textJobling, Mark A. "Molecular studies of the human Y chromosome." Thesis, University of Oxford, 1991. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.302791.
Full textCurwen, Gillian B. "G₂ chromosomal radiosensitivity in childhood and adolescent cancer survivors and their offspring." Thesis, St Andrews, 2008. http://hdl.handle.net/10023/425.
Full textRudd, Mary Katharine. "Organization, evolution and function of alpha satellite DNA at human centromeres." Case Western Reserve University School of Graduate Studies / OhioLINK, 2005. http://rave.ohiolink.edu/etdc/view?acc_num=case1091493781.
Full textTapia, Páez Isabel. "Characterization of human chromosome 22 : cloning of breakpoints of the constitutional translocation t(11;22)(q23;q11) and detection of small constitutional deletions by microarray CGH /." Stockholm, 2003. http://diss.kib.ki.se/2003/91-7349-505-0.
Full textLähdesmäki, R. (Raija). "Sex chromosomes in human tooth root growth:radiographic studies on 47,XYY males, 46,XY females, 47,XXY males and 45,X/46,XX females." Doctoral thesis, University of Oulu, 2006. http://urn.fi/urn:isbn:9514281705.
Full textStephens, Sarah H. "Fine mapping of the chromosome 15q13-14 schizophrenia linkage region /." Connect to full text via ProQuest. Limited to UCD Anschutz Medical Campus, 2008.
Find full textTypescript. Includes bibliographical references (leaves 112-128). Free to UCD Anschutz Medical Campus. Online version available via ProQuest Digital Dissertations;
Rosser, Zoë H. "Human Y chromosomes and the origins of modern European populations." Thesis, University of Leicester, 2000. http://hdl.handle.net/2381/30329.
Full textBaker, Elizabeth Gay. "The mapping of human chromosomes by fluorescence in situ hybridization /." Title page, contents and summary only, 1996. http://web4.library.adelaide.edu.au/theses/09MSM/09msmb167.pdf.
Full textCopies of author's previously published articles inserted. Includes bibliographical references (leaves 122-142).
Yu, Zhiling. "Interactions and architecture of human MCM proteins in vitro and in vivo /." View Abstract or Full-Text, 2003. http://library.ust.hk/cgi/db/thesis.pl?BICH%202003%20YU.
Full textIncludes bibliographical references (leaves 118-137). Also available in electronic version. Access restricted to campus users.
Al-Shammari, Mohamad H. "Integrated data analytics of germline mutation classes in human cancers. An integrated bioinformatics analysis to investigate associations between germline mutation classes and human cancers." Thesis, University of Bradford, 2013. http://hdl.handle.net/10454/6318.
Full textWittwer, Pia Ethena. "Physical and genetical investigation of the Xp11.3 region on the short arm of the human X-chromosome." Thesis, University of the Western Cape, 2004. http://etd.uwc.ac.za/index.php?module=etd&.
Full textKedra, Darek. "Characterization of candidate disease genes from human chromosomes 11g13 and 22q /." Stockholm, 1999. http://diss.kib.ki.se/1999/91-628-3792-3/.
Full textFang, Yu-Yan. "Microdissection and molecular cloning of extra small ring chromosomes of human /." Title page, contents and summary only, 1998. http://web4.library.adelaide.edu.au/theses/09PH/09phf211.pdf.
Full textCopies of author's previously published articles inserted. Errata pasted onto front end-paper. Includes bibliographical references (leaves 111-139).
Cheung, Kwok Leung. "Investigation of candidate tumor suppressor genes on chromosomes 3 and 14 in nasopharyngeal carcinoma /." View abstract or full-text, 2009. http://library.ust.hk/cgi/db/thesis.pl?BIOL%202009%20CHEUNG.
Full textAl-Shammari, Mohamad Hilal. "Integrated data analytics of germline mutation classes in human cancers : an integrated bioinformatics analysis to investigate associations between germline mutation classes and human cancers." Thesis, University of Bradford, 2013. http://hdl.handle.net/10454/6318.
Full textRaja, Kimenthra. "The influence of sex chromosomes on the outcome of human embryo development." Thesis, Link to the online version, 2005. http://hdl.handle.net/10019/1173.
Full textHolm, Pernilla. "Genetic studies of susceptibility to diabetes mellitus with emphasis on type 1 diabetes /." Stockholm, 2003. http://diss.kib.ki.se/2003/91-7349-527-1/.
Full textÅkesson, Eva. "Genetic mapping and association analysis in multiple sclerosis /." Stockholm, 2005. http://diss.kib.ki.se/2005/91-7140-174-1/.
Full textHolm, Sofia. "Molecular genetic studies of psoriasis susceptibility in 6p21.3 /." Stockholm, 2005. http://diss.kib.ki.se/2005/91-7140-225-X.
Full textDavies, Nicholas Paul. "Modification, transfer and expression of yeast artificial chromosomes carrying human immunoglobulin genes." Thesis, University of Cambridge, 1993. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.318326.
Full textSimopoulou, Maria. "Molecular cytogenetic approaches to the analysis of chromosomes in human preimplantation embryos." Thesis, University College London (University of London), 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.418296.
Full textGillet-Markowska, Alexandre. "Etude quantitative des variations structurelles des chromosomes chez Saccharomyces cerevisiae." Thesis, Paris 6, 2015. http://www.theses.fr/2015PA066233/document.
Full textThe accumulation of chromosomal rearrangements also called Structural Variations (SV) is a major contributor to the transformation of tumoral cells and to the constitution of intratumoral heterogeneity. We have developed a bio-informatic tool that can now provide a sharp image of SV that occur in the human genome. We have demonstrated the existence of SV present in low proportions in different supposedly clonal cell populations showing that the rates of SV formation could be greatly underestimated. In parallel, we have shown that the level of instability of the genome depends on predisposition factors. To identify those, we have developed genetic assays to measure the rate of SV in yeast that will allow us to identify new genes controlling the stability of the genome using large scale linkage analysis. These regulators represent new gene-candidates involved in the development of cancer in human as the determinants involved in DNA metabolism are very conserved between yeast and mammals
Ko, Josephine Mun Yee. "Tumor suppressive role of chromosomes 11, 13, and 14 in esophageal squamous cell carcinoma studied by functional complementation /." View abstract or full-text, 2005. http://library.ust.hk/cgi/db/thesis.pl?BIOL%202005%20KO.
Full textPeat, D. S. "The effect of herpes simplex virus type 1 on chromosomes of human cells." Thesis, University of Cambridge, 1986. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.383841.
Full textDaphnis, Danny Diamantis. "Molecular and cytogenetic approaches to the analysis of chromosomes in human preimplantation embryos." Thesis, University College London (University of London), 2006. http://discovery.ucl.ac.uk/1444371/.
Full textWhite, Jacqueline Katie. "Analysis of human NRAMP, IL8R and V1L1 genes (2q35) using yeast artificial chromosomes." Thesis, University of Cambridge, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.339595.
Full textInglehearn, Christopher Francis. "Minisatellite sequences close to the short arm telomere of the human sex chromosomes." Thesis, University of Edinburgh, 1988. http://hdl.handle.net/1842/14143.
Full textHolland, Katalin Anna. "Analysis of the molecular structure of centromeres of Chinese hamster and human chromosomes." Thesis, University of Leicester, 1993. http://hdl.handle.net/2381/34425.
Full textOakey, Rebecca. "The structure of alphoid satellite DNA on normal and abnormal human Y chromosomes." Thesis, University of Oxford, 1989. http://ora.ox.ac.uk/objects/uuid:162cb1a7-3176-4b56-be8b-353b65fee236.
Full textHan, Tie Lan. "Study of individual chromosomes in human ejaculated sperm by fluorescence in situ hybridization." Thesis, Adelaide Thesis (M.D.) -- University of Adelaide, Department of Obstetrics and Gynaecology, 1993. http://hdl.handle.net/2440/21663.
Full textHan, Tie Lan. "Study of individual chromosomes in human ejaculated sperm by fluorescence in situ hybridization." Adelaide Thesis (M.D.) -- University of Adelaide, Department of Obstetrics and Gynaecology, 1993. http://hdl.handle.net/2440/21663.
Full textGillet-Markowska, Alexandre. "Etude quantitative des variations structurelles des chromosomes chez Saccharomyces cerevisiae." Electronic Thesis or Diss., Paris 6, 2015. http://www.theses.fr/2015PA066233.
Full textThe accumulation of chromosomal rearrangements also called Structural Variations (SV) is a major contributor to the transformation of tumoral cells and to the constitution of intratumoral heterogeneity. We have developed a bio-informatic tool that can now provide a sharp image of SV that occur in the human genome. We have demonstrated the existence of SV present in low proportions in different supposedly clonal cell populations showing that the rates of SV formation could be greatly underestimated. In parallel, we have shown that the level of instability of the genome depends on predisposition factors. To identify those, we have developed genetic assays to measure the rate of SV in yeast that will allow us to identify new genes controlling the stability of the genome using large scale linkage analysis. These regulators represent new gene-candidates involved in the development of cancer in human as the determinants involved in DNA metabolism are very conserved between yeast and mammals
Liu, Jian. "Deletion mapping of human 3P in major epithelial malignancies and fine localization of candidate tumor suppressor genes /." Stockholm, 2003. http://diss.kib.ki.se/2003/91-7349-577-8/.
Full textChristoffels, Alan. "Generation of a human gene index and its application to disease candidacy." Thesis, University of the Western Cape, 2001. http://etd.uwc.ac.za/index.php?module=etd&action=viewtitle&id=gen8Srv25Nme4_2413_1185436829.
Full textWith easy access to technology to generate expressed sequence tags (ESTs), several groups have sequenced from thousands to several thousands of ESTs. These ESTs benefit from consolidation and organization to deliver significant biological value. A number of EST projects are underway to extract maximum value from fragmented EST resources by constructing gene indices, where all transcripts are partitioned into index classes such that transcripts are put into the same index class if they represent the same gene. Therefore a gene index should ideally represent a non-redundant set of transcripts. Indeed, most gene indices aim to reconstruct the gene complement of a genome and their technological developments are directed at achieving this goal. The South African National Bioinformatics Institute (SANBI), on the other hand, embarked on the development of the sequence alignment and consensus knowledgebase (STACK) database that focused on the detection and visualisation of transcript variation in the context of developmental and pathological states, using all publicly available ESTs. Preliminary work on the STACK project employed an approach of partitioning the EST data into arbitrarily chosen tissue categories as a means of reducing the EST sequences to manageable sizes for subsequent processing. The tissue partitioning provided the template material for developing error-checking tools to analyse the information embedded in the error-laden EST sequences. However, tissue partitioning increases redundancy in the sequence data because one gene can be expressed in multiple tissues, with the result that multiple tissue partitioned transcripts will correspond to the same gene.
Therefore, the sequence data represented by each tissue category had to be merged in order to obtain a comprehensive view of expressed transcript variation across all available tissues. The need to consolidate all EST information provided the impetus for developing a STACK human gene index, also referred to as a whole-body index. In this dissertation, I report on the development of a STACK human gene index represented by consensus transcripts where all constituent ESTs sample single or multiple tissues in order to provide the correct development and pathological context for investigating sequence variation. Furthermore, the availability of a human gene index is assessed as a diseasecandidate gene discovery resource. A feasible approach to construction of a whole-body index required the ability to process error-prone EST data in excess of one million sequences (1,198,607 ESTs as of December 1998). In the absence of new clustering algorithms, at that time, we successfully ported D2_CLUSTER, an EST clustering algorithm, to the high performance shared multiprocessor machine, Origin2000. Improvements to the parallelised version of D2_CLUSTER included: (i) ability to cluster sequences on as many as 126 processors. For example, 462000 ESTs were clustered in 31 hours on 126 R10000 MHz processors, Origin2000. (ii) enhanced memory management that allowed for clustering of mRNA sequences as long as 83000 base pairs. (iii) ability to have the input sequence data accessible to all processors, allowing rapid access to the sequences. (iv) a restart module that allowed a job to be restarted if it was interrupted. The successful enhancements to the parallelised version of D2_CLUSTER, as listed above, allowed for the processing of EST datasets in excess of 1 million sequences. An hierarchical approach was adopted where 1,198,607 million ESTs from GenBank release 110 (October 1998) were partitioned into "
tissue bins"
and each tissue bin was processed through a pipeline that included masking for contaminants, clustering, assembly, assembly analysis and consensus generation. A total of 478,707 consensus transcripts were generated for all the tissue categories and these sequences served as the input data for the generation of the wholebody index sequences. The clustering of all tissue-derived consensus transcripts was followed by the collapse of each consensus sequence to its individual ESTs prior to assembly and whole-body index consensus sequence generation. The hierarchical approach demonstrated a consolidation of the input EST data from 1,198607 ESTs to 69,158 multi-sequence clusters and 162,439 singletons (or individual ESTs). Chromosomal locations were added to 25,793 whole-body index sequences through assignment of genetic markers such as radiation hybrid markers and gé
né
thon markers. The whole-body index sequences were made available to the research community through a sequence-based search engine (http://ziggy.sanbi.ac.za/~alan/researchINDEX.html).
Machado, Melissa Pereira. "Monitoramento molecular dos transcritos BCR/ABL de pacientes com leucemia mieloide cronica em uso de imatinibe atraves da tecnica de PCR quantitativo em tempo rela (real-time)." [s.n.], 2009. http://repositorio.unicamp.br/jspui/handle/REPOSIP/310185.
Full textDissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas
Made available in DSpace on 2018-08-14T18:14:56Z (GMT). No. of bitstreams: 1 Machado_MelissaPereira_M.pdf: 1144638 bytes, checksum: c55a80d3cce151782b16b741b0f21149 (MD5) Previous issue date: 2009
Resumo: A leucemia mieloide crônica (LMC) e uma desordem mieloproliferativa caracterizada pela presença do cromossomo Philadelphia (Ph), resultado da fusão do gene abl e do gene bcr cujo produto e uma proteína de atividade de tirosina quinase, inibida pelo mesilato de imatinibe. O imatinibe e hoje o tratamento de primeira linha da LMC e o monitoramento molecular dos transcritos BCR-ABL e fundamental no acompanhamento dos pacientes e na detecção precoce da perda de resposta ao tratamento. O objetivo deste trabalho foi realizar a padronização do método de PCR quantitativo (RQPCR) para o monitoramento molecular dos transcritos BCR-ABL de pacientes com LMC em tratamento com imatinibe. Foram coletadas amostras de sangue periferico de pacientes com LMC para RQ-PCR ao diagnostico e a cada três meses apos o tratamento com imatinibe. Foi utilizado o método Taqman. Como gene controle foi utilizado o ABL. Foi criada uma curva standard com diluições de 108 a 103 de um plasmideo com os transcritos b3a2 e b2a2 e com ABL. As quantificações foram feitas em duplicatas, assim como a curva standard. O threshold utilizado foi de 0,05 e a eficiência foi determinada em 99%. Os resultados foram reportados como uma relação entre BCR-ABL/ABL. Para o valor de referencia basal do laboratório foram analisadas 30 amostras de pacientes ao diagnostico, e calculada a mediana, sendo esse valor 83,66%. Resposta molecular maior (RMM) foi definida como redução dos transcritos BCR-ABL em 3 log a partir do valor basal do laboratório. Os valores foram ajustados a escala internacional, usando-se um fator de conversão de 1.19. Apos a padronização do método, foram avaliados 60 pacientes com LMC, cujas amostras foram coletadas ao diagnostico e a cada 3 meses. Respostas hematológica, citogenetica maior e citogenetica completa foram obtidas em 57 (95%), 45 (75%) e 38 (63%) dos pacientes, respectivamente. Vinte e quatro de 60 pacientes atingiram a RMM (40%), numa mediana de 8,5 meses. A sobrevida global foi superior nos pacientes com RCC (100%) vs pacientes sem RCC (77%) em 48 meses. Pacientes com RCC e com RMM tiveram uma sobrevida livre de eventos superior em relação aos pacientes que não atingiram os dois tipos de reposta (100% vs 60% respectivamente) (p= 0.007). Em resumo, neste estudo demonstramos o impacto prognostico em atingir RCC e RMM e também a importância do acompanhamento molecular nos pacientes com LMC.
Abstract: Chronic myeloid leukemia (CML) is a myeloproliferative disorder characterized by the presence of Philadelphia chromosome (Ph), the result of bcr and abl gene fusion, which product is a protein with kinase activity, inhibited by imatinib. Imatinib is currently the first-line treatment of CML and molecular monitoring of BCRABL transcripts is essential in monitoring of patients and for the early detection of loss of response to treatment. The aim of this study was to standardize quantitative PCR (RQ-PCR) method for molecular monitoring of BCR-ABL transcripts in patients with CML treated with imatinib. Peripheral blood samples from chronic phase patients were collected for RQ-PCR at diagnosis and every three months after treatment with imatinib. Taqman method was used for RQ-PCR. A standard curve with dilutions of 108 to 103 of a plasmid with the b3a2 and b2a2 transcripts and ABL gene, used as the control gene, was constructed. The runs were made in duplicates. The threshold used was 0.05 and the efficiency was determined as 99%. The results were reported as a BCR-ABL/ABL ratio (%). For the reference value of the baseline of the laboratory 30 samples from patients at diagnosis were quantified and the median value calculated was 83.66%. Major molecular response (MMR) was considered a three log reduction from the baseline value. MMR values were adjusted to international scale, using a conversion factor of 1.19. After standardization, BCR-ABL levels of 60 CML patients in chronic phase treated with imatinib were measured at diagnosis and then every three months. Hematological, major cytogenetic and complete cytogenetic responses were achieved in 57 (95%), 45 (75%) and 38 (63%) patients, respectively. Twenty-four out of 60 patients achieved a MMR (40%), in a median time of 8.5 months. Overall survival was superior for patients with CCR (100%) versus patients with no CCR (77%) (p= 0.01) in 48 months. Patients with CCR and with MMR had a superior event free-survival (EFS) in comparison with patients with CCR and no MMR (p= 0.007). In conclusion, we could demonstrate the prognostic impact of achieving CCR and a major molecular response and also the importance of molecular monitoring in the follow-up of CML patients.
Mestrado
Ciencias Medicas
Mestre em Clinica Medica