Tesis sobre el tema "Chromosomal abnormalities"
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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.
Texto completoLahn, Bruce T. 1968. "The human Y chromosome : gene content and chromosomal abnormalities". Thesis, Massachusetts Institute of Technology, 1998. http://hdl.handle.net/1721.1/49655.
Texto completoSchouten, Hendricus Constantinus. "Chromosomal abnormalities in hematological malignancies". Maastricht : Maastricht : Datawyse ; University Library, Maastricht University [Host], 1991. http://arno.unimaas.nl/show.cgi?fid=5640.
Texto completoMartini, Elena. "Chromosomal abnormalities in human gametes". Maastricht : Maastricht : UPM, Universitaire Pers Maastricht ; University Library, Maastricht University [Host], 1998. http://arno.unimaas.nl/show.cgi?fid=8529.
Texto completoKirkpatrick, Gordon. "Chromosome segregation and meiotic defects in carriers of chromosomal abnormalities". Thesis, University of British Columbia, 2009. http://hdl.handle.net/2429/9705.
Texto completoIatropoulou, Aikaterini. "Genesis of chromosomal abnormalities during oocyte growth and maturation". Thesis, Imperial College London, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.408762.
Texto completoAl, farawati Samer. "Analysis of chromosomal abnormalities in human oocytes and embryos". Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:da17212b-2713-4e6e-846a-e71549d6eb2f.
Texto completoConnor, Jessica. "Chromosomal abnormalities identified in infants with congenital heart disease". University of Cincinnati / OhioLINK, 2011. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1307441785.
Texto completoYang, Hui. "Chromosome dynamics and chromosomal proteins in relation to apoptotic cell death in yeast". Laramie, Wyo. : University of Wyoming, 2008. http://proquest.umi.com/pqdweb?did=1594496261&sid=1&Fmt=2&clientId=18949&RQT=309&VName=PQD.
Texto completoMansouri, Mahmoud R. "Molecular Characterisation of Structural Chromosomal Abnormalities Associated with Congenital Disorders". Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis, 2006. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-6887.
Texto completoMcManus, Damian Terence. "Somatic genetic and chromosomal abnormalities in ovarian and breast carcinoma". Thesis, Queen's University Belfast, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.263336.
Texto completoKuo, Hongqi. "Nuclear and chromosomal abnormalities in human preimplantation development in vitro". Thesis, King's College London (University of London), 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.251676.
Texto completoSanoudou, Depi. "Chromosomal abnormalities in primary neoplasms of the central nervous system". Thesis, University of Cambridge, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.621592.
Texto completoKoen, Liezl. "Chromosomal aberrations in the Xhosa shizophrenia population /". Link to the online version, 2008. http://hdl.handle.net/10019/1697.
Texto completoPan, Yi. "Molecular cytogenetic investigations of chromosomal abnormalities in prostate and urinary bladder cancers /". Stockholm, 2000. http://kib.ki.se/2000/91-628-4296-X/.
Texto completoCurwen, Gillian B. "G₂ chromosomal radiosensitivity in childhood and adolescent cancer survivors and their offspring". Thesis, St Andrews, 2008. http://hdl.handle.net/10023/425.
Texto completoKempski, Helena Maria. "A molecular cytogenetic study of chromosome regions 11q23 and 21q22 in childhood leukaemia". Thesis, University College London (University of London), 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.313659.
Texto completoСмірнов, Олег Ювеналійович, Олег Ювенальевич Смирнов, Oleh Yuvenaliiovych Smirnov, Альона Олександрівна Потапова, Алена Александровна Потапова y Alyona Oleksandrivna Potapova. "Хромосомні хвороби в Сумській області". Thesis, Видавництво СумДУ, 2008. http://essuir.sumdu.edu.ua/handle/123456789/5962.
Texto completoFragouli, Elpida. "The detection of chromosomal abnormalities in human oocytes and preimplantation embryos by molecular cytogenetic analysis". Thesis, University College London (University of London), 2005. http://discovery.ucl.ac.uk/1445491/.
Texto completoAl-Mufti, Raghad Abdul Wahab Mohamed Latif. "Non-invasive prenatal diagnosis of chromosomal abnormalities by isolation of fetal cells from the maternal circulation". Thesis, King's College London (University of London), 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.404600.
Texto completoMantzouratou, A. "Molecular cytogenetic investigation of the origin of chromosomal abnormalities arising in human preimplantation embryos and oocytes". Thesis, University College London (University of London), 2008. http://discovery.ucl.ac.uk/1444324/.
Texto completoNarayanan, Vidhya. "Inverted repeats as a source of eukaryotic genome instability". Diss., Atlanta, Ga. : Georgia Institute of Technology, 2008. http://hdl.handle.net/1853/24774.
Texto completoCommittee Chair: Lobachev, Kirill; Committee Co-Chair: Chernoff, Yury; Committee Member: Crouse, Gray; Committee Member: Goodisman, Michael; Committee Member: Streelman, Todd.
Koen, Liezl. "Chromosomal aberrations in the Xhosa schizophrenia population". Thesis, Stellenbosch : Stellenbosch University, 2008. http://hdl.handle.net/10019.1/1189.
Texto completoBACKGROUND: Schizophrenia is a heterogeneous illness resulting from complex gene-environment interplay. The majority of molecular genetic work done has involved Caucasian populations, with studies in these and Asian populations showing 2-32% of sufferers to have chromosomal aberrations. So far the discovery of a specific susceptibility mechanism or gene still eludes us, but the use of endophenotypes is advocated as a useful tool in this search. No cytogenetic studies of this nature have been reported in any African schizophrenia population. AIM: The aim of the study was to combine genotypic and phenotypic data, collected in a homogenous population in a structured manner, with the hope of characterising an endophenotype that could be used for more accurate identification of individuals with possible chromosomal abnormalities. METHODOLOGY: A structured clinical interview was conducted on 112 Xhosa schizophrenia patients. (Diagnostic Interview for Genetic Studies, including Schedules for the Assessment of Negative and Positive Symptoms.) Blood samples (karyotyping and/or FISH analysis) as well as urine samples (drug screening) were obtained and nine head and facial measurements were performed. Descriptive statistics were compiled with reference to demographic, clinical and morphological variables. Comparisons between mean differences for these variables were made.
Hyett, Jonathan A. "Fetal cardiac defects and increased nuchal translucency at 10-14 weeks of gestation". Thesis, King's College London (University of London), 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.391627.
Texto completoHillman, Sarah Christine. "The use of prenatal chromosomal microarrays when performed for a fetus with structural abnormalities on ultrasound scan". Thesis, University of Birmingham, 2014. http://etheses.bham.ac.uk//id/eprint/4762/.
Texto completoWong, Chi-wai. "High resolution mapping of loss of heterozygosity and chromosomal aberrations using oligonucleotide single nucleotide polymorphism genotyping arrays in colorectal adenoma to carcinoma progression". Click to view the E-thesis via HKUTO, 2006. http://sunzi.lib.hku.hk/hkuto/record/B3871923X.
Texto completoHughes, Katelyn. "Gene fusions in cancer: Classification of fusion events and regulation patterns of fusion pathway neighbors". Digital WPI, 2016. https://digitalcommons.wpi.edu/etd-theses/764.
Texto completoWong, Chi-wai y 黃志偉. "High resolution mapping of loss of heterozygosity and chromosomal aberrations using oligonucleotide single nucleotide polymorphismgenotyping arrays in colorectal adenoma to carcinoma progression". Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2006. http://hub.hku.hk/bib/B3871923X.
Texto completoFreitas, Paula Curi de [UNESP]. "Análise citogenética e molecular do gene FOXO3 em síndrome mielodisplásica". Universidade Estadual Paulista (UNESP), 2011. http://hdl.handle.net/11449/92538.
Texto completoSíndromes Mielodisplásicas (SMD) compreendem um conjunto heterogêneo de doenças hematopoéticas caracterizadas por hematopoese ineficaz, que geralmente apresentam citopenias no sangue periférico, medula óssea hipercelular, diferenciação celular displásica e propensão ao desenvolvimento de leucemia mielóide aguda. São classificadas em oito tipos e a incidência anual é estimada entre dois e 12 casos por 100.000 pessoas da população em geral e em até 50 casos por 100.000 indivíduos com idades superiores a 60 anos. A análise cromossômica das células da medula óssea dos doentes ao diagnóstico detecta alterações diretamente relacionadas com o prognóstico em aproximadamente 50% dos casos. Alguns genes também foram relacionados à etiologia e prognóstico das mielodisplasias. O gene FOXO3, um supressor de tumor, embora não estudado anteriormente em SMD, é um dos genes que mais se expressam no tecido hematopoético normal. Alterações neste gene poderiam resultar em hematopoese anormal, pois já foram relacionadas a outros tipos de câncer, com mutações descritas no éxon 1. O objetivo deste trabalho foi estudar células da medula óssea de doentes com SMD de qualquer tipo, ao diagnóstico, para investigar a presença de alterações cromossômicas e de mutações no éxon 1 do FOXO3. A análise citogenética foi realizada em metáfases submetidas ao bandamento GTG, obtidas de culturas de curta duração de células da medula, sem estimulação mitogênica. Para a análise molecular foi extraído o DNA, realizada a amplificação gênica pela Reação em Cadeia da Polimerase e realizado o sequenciamento direto do éxon 1. Entre os 25 casos analisados, três (12%) apresentaram alterações cromossômicas clonais isoladas: deleção intersticial do braço longo do cromossomo 5; monossomia do cromossomo 21 e monossomia do cromossomo 22. Todas puderam ser relacionadas...
Myelodysplastic syndrome (MDS) constitute a heterogeneous group of hematopoietic diseases characterized by ineffective hematopoiesis usually with peripheral blood cytopenia, hypercellular bone marrow, dysplastic differentiation and a tendency to evolve to acute myeloid leukemia. They are classified in eight categories by the World Health Organization. The annual incidence is estimated at between two and 12 cases per 100,000 individuals in the general population and up to 50 cases per 100,000 of over 60-year olds. A chromosomal analysis of bone marrow cells at diagnosis identifies changes directly related to prognosis in approximately 50% of cases. Additionally, some genes are also associated to the etiology and prognosis of myelodysplasia. Although not previously studied in respect to MDS, a tumor suppressor, FOXO3, is one of the most commonly expressed genes in normal hematopoietic tissue. Changes in this gene could therefore result in abnormal hematopoiesis, as mutations described in exon 1 have already been associated with other types of cancer. The aim of this study was to investigate chromosomal alterations and mutations in exon 1 of FOXO3 in bone marrow cells from patients diagnosed with any type of MDS. Cytogenetic analysis was performed on metaphases submitted to GTG banding, obtained from short-term cultures of bone marrow cells without mitogenic stimulation. To evaluate mutations in the FOXO3 gene, DNA was extracted from the bone marrow, gene amplification was achieved by polymerase chain reaction and direct sequencing was performed. Of the 25 cases analyzed, three (12%) showed clonal chromosomal abnormalities in isolation characterized as the interstitial deletion of the long arm of chromosome 5, monosomy 21 and monosomy 22. All were correlated to the diagnosis and/or prognosis of patients. No mutations were detected in exon 1, but the 159C>T polymorphism was detected... (Complete abstract click electronic access below)
Rodrigues, Rubens Matias. "Refinamento citogenético em indivíduos com anomalias craniofaciais sindômicas sem diagnóstico definido". Universidade de São Paulo, 2010. http://www.teses.usp.br/teses/disponiveis/61/61132/tde-17062010-141102/.
Texto completoObjective: To investigate possible cytogenetic abnormalities through high resolution banding technique in individuals with craniofacial anomalies presenting previous normal karyotype, associated to neuropsychological development delay, without clinic-genetic diagnoses, and establish possible correlation between phenotype and possible candidate chromosomal regions. Local: Human Cytogenetic Laboratory and Clinical Genetic Service, HRAC-USP, Bauru, SP. Individuals and Results: High resolution karyotype of 16 individuals with craniofacial anomalies associated to neuropsychological development delay in follow-up at the HRAC-USP, Bauru allowed the detection of structural chromosomal abnormalities in 4 (25%) of them. Three individuals presented deletion in the subtelomeric region (chromosomes 4p, 9p, and 18q), and one individual presented an addition of an unknown chromosomal fragment in the telomeric region of chromosome 12p. Conclusions: The high frequency (25%) of structural chromosomal abnormalities in terminal region (telomeric and subtelomeric) shows that the high resolution technique is useful for identification of structural anomalies in these regions. Therefore, individuals with craniofacial anomalies associated to neuropsychological development delay without a definitive clinic-genetic diagnoses presenting a normal conventional karyotype, should be submitted to chromosomal analysis through high resolution karyotype before CGH-array procedure.
Lionetti, M. "BIOLOGICAL AND CLINICAL RELEVANCE OF MIRNA EXPRESSION SIGNATURES IN PRIMARY PLASMA CELL LEUKEMIA". Doctoral thesis, Università degli Studi di Milano, 2013. http://hdl.handle.net/2434/217172.
Texto completoSilva, Fernanda Borges da. "Uso do Single Nucleotide Polymorphism Array (SNP-A) na investigação de alterações citogenéticas em pacientes com síndromes mielodisplásicas". Universidade de São Paulo, 2016. http://www.teses.usp.br/teses/disponiveis/17/17154/tde-29032017-164341/.
Texto completoMyelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematopoietic diseases, characterized by inefficient hematopoiesis, peripheral blood cytopenias and a risk to progress to acute myeloid leukemia (AML). Acquired chromosomal abnormalities have prognostic value in MDS. However, metaphase cytogenetics has some limitations including low resolution and the requirement of cell division, and chromosomal abnormalities may not be detected. New technologies based on array, the Single Nucleotide Polymorphism Array (SNP-A), are able to evaluate the whole genome. The SNP-A has superior resolution compared to metaphase cytogenetics, may be used in interphase cells, and may detect chromosomal abnormalities not detected by metaphase cytogenetics. In addition, the SNP-A read-out includes genotyping calls and hybridization signal strength, corresponding to gene copy number, allowing detecting copy neutral loss of heterozigosity (CN-LOH), also known as uniparental dissomy (UPD). Deletions, copy neutral loss of heterozigosity or gain are frequent in patients with haematopoietic neoplasms and has already suggested the location of tumor suppressor genes and oncogenes. The aim of this study was to characterize the cohort of patients with clinical suspicion of MDS and to establish the integrative use of the conventional cytogenetic and the SNP-A in the investigation of chromosomal abnormalities in patients with MDS and related diseases followed at our institution. The clinical, morphological and cytogenetic evaluation allowed us to confirm the diagnosis of MDS or related disease in 43 patients (MDS [n=34], MDS/MPN [n=5], AML with myelodysplastic changes [n=4]). Twenty-one patients were diagnosed with idiopathic cytopenia with undetermined significance (ICUS) and 50 patients had other diagnosis. SNP-A were performed in 17 patients with MDS and related disease. Chromosomal abnormalities were observed in 6/17 (35%) cases by metaphase cytogenetics, and in 8/17 (47%) of the cases by SNP-A. SNP-A did not detected two balanced translocations and two numerical alterations previously observed by metaphase cytogenetics. SNP-A confirmed all the other findings observed by metaphase cytogenetics and SNP-A detected a total of 32 new lesions (1 gain, 19 losses and 12 UPDs) in 6 MDS and related diseases. SNP-A may complement metaphase cytogenetics to improve the detection of chromosomal abnormalities in myeloid neoplasms.
Mohamed, Yousoof Saira Bahnu. "Genomic and functional approaches in identification and characterisation of novel eye disease genes". Thesis, The University of Sydney, 2013. http://hdl.handle.net/2123/10055.
Texto completoDonate, López Anna. "Efecte de l’edat paterna en les anomalies cromosòmiques numèriques i estructurals de l’espermatozoide humà". Doctoral thesis, Universitat Autònoma de Barcelona, 2016. http://hdl.handle.net/10803/400953.
Texto completoThis doctoral thesis explores the relationship between sperm chromosome abnormalities and age in healthy men from the general population. The main objectives of this work were to determine (1) the relationship between donor age and frequency and type of chromosome abnormalities and (2) chromosomes more frequently involved in sperm chromosome abnormalities. We performed fluorescence in situ hybridization (FISH) in the spermatozoa of 10 donors: 5 men younger than 40 years old and 5 fertile men older than or equal to 60 years. We analyzed 15,000 sperm nuclei for each donor and 10,000 sperm nuclei for each chromosome in ten donors by FISH with a TelVysion assay, with a total of 150.000 sperm nuclei. This FISH technique provides data on disomy of 19 chromosomes and on structural abnormalities of 22 chromosomes in a single sperm sample per donor, thus minimizing intra-donor variability and optimizing consistent analysis. Based on our results, the results of the previous studies and the comparison between them, we must conclude that: a) There were no significant differences in the incidence of disomy, diploidy nor total numerical abnormalities between younger and older men, b) Aneuploidy of the sex chromosomes is more common than that of the autosomes, and the relationship between the two does not change with age, c) Our results suggest that some probe combinations have a tendency to show higher levels of diploidy thus potentially affecting FISH results and highlighting the limitations of FISH, d) Older patients had a higher rate of structural abnormalities (6.6%) compared with the younger men (4.9%), e) The distribution of duplications and deletions was not linear along the chromosomes, although a trend toward a higher rate of abnormalities in larger chromosomes was observed. Our findings demonstrate the presence of an excess of duplications versus deletions in both age groups at a ratio of 2 to 1, f) This work is the first study addressing the frequencies of sperm chromosome abnormalities of 19-22 chromosomes in a single assay thus making a contribution to the clarification of the amount and origin of damage present in human spermatozoa in relation to age.
Abreu, Ludmila Serafim de. "Estudo Citogenético de Indivíduos Afetados por Deficiência Mental em Três APAES da Região de Ribeirão Preto". Universidade de São Paulo, 2010. http://www.teses.usp.br/teses/disponiveis/17/17135/tde-22042013-162950/.
Texto completoIn etiological studies on mental retardation (MR), the chromosomal abnormalities, both numerical and structural, are factors that have significant relative frequencies. The objective was to study the frequencies and types of chromosomal abnormalities in patients affected by MR in APAEs (Associação de Pais e Amigos dos Deficientes) of Batatais, Altinópolis and Serrana. This aims to better understand the contribution of these abnormalities to MR in these regions, and thus characterizing the types and frequencies of chromosomal aberrations observed in order to compare them between APAEs. Patients suspected of chromosomal abnormalities were selected for the study. The criterion used for sample selection was the achievement of the karyotype of all patients affected by MR with major and/or minor structural abnormalities. Cytogenetic analysis was performed on cultures of peripheral blood lymphocytes, where the band G was used for staining. Twenty metaphases were analyzed per patient. Of the 505 individuals evaluated in three APAEs, a cytogenetic study was performed on 265 patients, and 61 chromosomal abnormalities were found (12.1% of the total and 23.0% of the selected karyotypes). In APAE of Batatais, karyotypes were performed on 174 of the 305 subjects studied, and we found 33 chromosomal abnormalities (10.8% of total). In Altinópolis, 54 karyotypes were performed out of the 107 subjects studied, and we observed 16 abnormal karyotypes (14.9% of total). In APAE Serrana, 37 karyotypes were performed out of the 93 subjects studied, and 12 chromosomal abnormalities (12.9% of total) were found. These results show that chromosomal abnormalities contribute significantly to the etiology of MR and that classical cytogenetics have important implications in medical practice for diagnosis of affected individuals as well as for genetic counseling of the families. Moreover, it is noted that in the APAE of Batatais, because of the smaller percentage of individuals affected by severe MR, 60.7% have a lower incidence of chromosomal abnormalities when compared to the APAEs of Altinópolis and Serrana which have frequencies of 87.8% and 83.9% of individuals with severe MR, respectively. This indicates that chromosomal abnormalities are more frequent in individuals affected by severe MR.
Toyama, Julio Mitsutomo. "O papel da dopplervelocimetria do ducto venoso de 11 a 13 6/7 semanas no rastreamento de anomalias cromossômicas, malformações estruturais e prognóstico fetal". Universidade de São Paulo, 2004. http://www.teses.usp.br/teses/disponiveis/5/5139/tde-13102014-101232/.
Texto completoObjective: To evaluate the association between abnormal ductus venosus at 11 - 13 6/7 weeks\' gestation and chromosomal abnormalities, structural defects and fetal outcome. Methods: Ductus venosus waveform (DVFVW) and nuchal translucency (NT) thickness were prospectively evaluated in 1221 singleton pregnancies. Results: The DVFVW was abnormal in 84 cases, NT was above the 95th centile in 160 cases and both markers were observed in 41 fetuses. Chromosomal defects were diagnosed in 22 fetuses. The sensitivity, specificity and positive predictive values for an abnormal karyotype were respectively 86.4%, 86.9%, 11.9% for an increased NT; 68.2%, 96.9%, 31.3% for DVFVW abnormalities and 68.2%, 97.6%, 36.6% for both markers. Regarding structural defects, this values were 43.8%, 92.9%, 8.3% for an abnormal NT, 25%, 92.6%, 4.8% for DVFVW abnormalities and 25%, 97.9%, 15.4% for both. Considering those cases of unexplained fetal demise, the percentages were 44.4%, 85.9%, 5% for NT abnormalities, 22.2%, 92.6%, 4.8% for an abnormal DVFVW and 22.2%, 98%, 15.4% for both. In cases with increased NT measurement, the percentage of livebirths with normal karyotype and no major fetal structural defects decreased from 93.8% in normal DVFVW fetuses to 77.3%, when abnormal. Conclusion: Ductus venosus assessment at 11 - 13 6/7 weeks\' gestation is useful in screening for fetal chromosomal abnormalities and may help to reduce the false-positive rate when combining with NT thickness measurement. Abnormal DVFVW is also associated with an increase of adverse perinatal outcome in fetuses with enlarged NT. However, the value of DVFVW assessment in cases with normal NT measurement is unclear
Freitas, Paula Curi de. "Análise citogenética e molecular do gene FOXO3 em síndrome mielodisplásica /". São José do Rio Preto : [s.n.], 2011. http://hdl.handle.net/11449/92538.
Texto completoBanca: Cleide Largman Borovik
Banca: Cláudia Regina Bonini Domingos
Resumo: Síndromes Mielodisplásicas (SMD) compreendem um conjunto heterogêneo de doenças hematopoéticas caracterizadas por hematopoese ineficaz, que geralmente apresentam citopenias no sangue periférico, medula óssea hipercelular, diferenciação celular displásica e propensão ao desenvolvimento de leucemia mielóide aguda. São classificadas em oito tipos e a incidência anual é estimada entre dois e 12 casos por 100.000 pessoas da população em geral e em até 50 casos por 100.000 indivíduos com idades superiores a 60 anos. A análise cromossômica das células da medula óssea dos doentes ao diagnóstico detecta alterações diretamente relacionadas com o prognóstico em aproximadamente 50% dos casos. Alguns genes também foram relacionados à etiologia e prognóstico das mielodisplasias. O gene FOXO3, um supressor de tumor, embora não estudado anteriormente em SMD, é um dos genes que mais se expressam no tecido hematopoético normal. Alterações neste gene poderiam resultar em hematopoese anormal, pois já foram relacionadas a outros tipos de câncer, com mutações descritas no éxon 1. O objetivo deste trabalho foi estudar células da medula óssea de doentes com SMD de qualquer tipo, ao diagnóstico, para investigar a presença de alterações cromossômicas e de mutações no éxon 1 do FOXO3. A análise citogenética foi realizada em metáfases submetidas ao bandamento GTG, obtidas de culturas de curta duração de células da medula, sem estimulação mitogênica. Para a análise molecular foi extraído o DNA, realizada a amplificação gênica pela Reação em Cadeia da Polimerase e realizado o sequenciamento direto do éxon 1. Entre os 25 casos analisados, três (12%) apresentaram alterações cromossômicas clonais isoladas: deleção intersticial do braço longo do cromossomo 5; monossomia do cromossomo 21 e monossomia do cromossomo 22. Todas puderam ser relacionadas... (Resumo completo, clicar acesso eletrônico abaixo)
Abstract: Myelodysplastic syndrome (MDS) constitute a heterogeneous group of hematopoietic diseases characterized by ineffective hematopoiesis usually with peripheral blood cytopenia, hypercellular bone marrow, dysplastic differentiation and a tendency to evolve to acute myeloid leukemia. They are classified in eight categories by the World Health Organization. The annual incidence is estimated at between two and 12 cases per 100,000 individuals in the general population and up to 50 cases per 100,000 of over 60-year olds. A chromosomal analysis of bone marrow cells at diagnosis identifies changes directly related to prognosis in approximately 50% of cases. Additionally, some genes are also associated to the etiology and prognosis of myelodysplasia. Although not previously studied in respect to MDS, a tumor suppressor, FOXO3, is one of the most commonly expressed genes in normal hematopoietic tissue. Changes in this gene could therefore result in abnormal hematopoiesis, as mutations described in exon 1 have already been associated with other types of cancer. The aim of this study was to investigate chromosomal alterations and mutations in exon 1 of FOXO3 in bone marrow cells from patients diagnosed with any type of MDS. Cytogenetic analysis was performed on metaphases submitted to GTG banding, obtained from short-term cultures of bone marrow cells without mitogenic stimulation. To evaluate mutations in the FOXO3 gene, DNA was extracted from the bone marrow, gene amplification was achieved by polymerase chain reaction and direct sequencing was performed. Of the 25 cases analyzed, three (12%) showed clonal chromosomal abnormalities in isolation characterized as the interstitial deletion of the long arm of chromosome 5, monosomy 21 and monosomy 22. All were correlated to the diagnosis and/or prognosis of patients. No mutations were detected in exon 1, but the 159C>T polymorphism was detected... (Complete abstract click electronic access below)
Mestre
Palle, Josefine. "Optimizing Chemotherapy in Childhood Acute Myeloid Leukemia". Doctoral thesis, Uppsala University, Department of Women's and Children's Health, 2008. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-9189.
Texto completoDespite major advances in our understanding of the biology of childhood acute myeloid leukemia (AML) and the development of new cytotoxic drugs, the prognosis of long-term survival is still only 60-65 %.
In the present research, we studied the pharmacokinetics of drugs used in the induction therapy of childhood AML and performed in vitro drug sensitivity testing of leukemic cells from children with AML.
The aims of the studies were to correlate the results of the analysis to biological and clinical parameters and to identify subgroups of AML with specific drug sensitivity profiles in order to better understand why treatment fails in some patients and how therapy may be improved.
Blood samples were analysed to study the pharmacokinetics of doxorubicin (n=41), etoposide (n=45) and 6-thioguanine (n=50). Doxorubicin plasma concentration and total body clearance were correlated to the effect of induction therapy, and doxorubicin plasma concentration was an independent factor for complete remission, both in univariate and multivariate analysis including sex, age, and white blood cell count at diagnosis. For etoposide and 6-thioguanine no correlation was found between pharmacokinetics and clinical effect. Children with Down syndrome (DS) tended to reach higher blood concentrations of etoposide and thioguanine nucleotides, indicating that dose reduction may be reasonable to reach the same drug exposure as in children without DS.
Leukemic cells from 201 children with newly diagnosed AML, 15 of whom had DS, were successfully analysed for in vitro drug sensitivity by the fluorometric microculture cytotoxicity assay (FMCA). We found that samples from children with DS were highly sensitive to most drugs used in AML treatment. In non-DS children, the t(9;11) samples were significantly more sensitive to cytarabine (p=0.03) and doxorubicin (p=0.035) than other samples. The findings might explain the very favorable outcome reported in children with DS and t(9;11)-positive AML. A specific drug resistance profile was found for several other genetic subgroups as well. A detailed study of MLL-rearranged leukemia showed that cellular drug sensitivity is correlated both to partner genes and cell lineage, findings that support the strategy of contemporary protocols to include high-dose cytarabine in the treatment of patients with MLL-rearrangement, both in AML and acute lymphoblastic leukemia (ALL).
Our results indicate that drug resistance and pharmacokinetic studies may yield important information regarding drug response in different sub-groups of childhood AML, helping us to optimize future chemotherapy in childhood AML.
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
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Souza, Daiane Corrêa de Souza e. "Estudo do padrão cromossômico em síndrome mielodisplásica primária hipocelular e sua correlação com aspectos celulares e clínicos". Universidade do Estado do Rio de Janeiro, 2009. http://www.bdtd.uerj.br/tde_busca/arquivo.php?codArquivo=1703.
Texto completoHypocellular primary MDS occurs in a frequency of 10-20% of the adults MDS cases, however it is the most frequent subtype in childhood. Diagnosis of hypocellular primary MDS is very difficult, because the small number of cells in bone marrow and it can be confused with hypocellular AML or AA. The differential diagnosis between these hematologic entities is extremely important because of AML is more aggressive and the possibility of MDS evolve to AML. Besides, MDS and AA are indicated to HSCT, however, conditioning regimens before the transplantation is specific for each disease. The combination between morphologic analysis, carried out through mielogram and bone marrow biopsy, and cytogenetic analysis have been performed a fundamental role on the recognition of hypocellular primary MDS. However, studies have been carried out to try improving the MDS diagnosis considering the biological characteristics as the presence of apoptosis. Thus, the aim of this study was characterize the chromosomal pattern of hypocellular primary MDS and correlate with cellular and clinic aspects. It was analyzed 86 cases of hypocellular primary MDS, 74 RA, 10 RAEB and 2 RAEB-t. Patients with RA presented 50% of abnormal karyotype and all patients with RAEB presented abnormal karyotype as well as RAEB-t patients. The most frequent chromosomal alterations in this study was del(17p) followed by alterations involving chromosome 7. Our results suggest that chromosomal pattern in hypocellular primary MDS is characterized mainly by partial and complete loss of chromosomes (deletion and monosomy). The cytogenetic analysis aided in diagnosis of cases with suspicion of hypocellular primary MDS and it was an important tool for treatment choice. IPSS showed to be a good prognostic scoring system for this group of patients. Alterations involving chromosome 17 were associated with RA subtype and dysplastic characteristics involving granulocytic setor, however, we could see del(17p) in RAEB patients. For apoptosis analysis were used 42 samples of MDS patients, 23 with primary hypocellular MDS, 8 with primary normocelular MDS and 11 with primary hipercelular MDS. The total apoptosis index in cases of hypocellular primary MDS presented a average of 9,5%, whereas patients with primary normocelular MDS and primary hipercelular MDS presented an average of 12% and 14,1%, respectively. For the analysis of specific lineage cells already commited with cellular proliferation program appears to be the main target of apoptosis program. Despite of patients with primary hypocellular MDS presented total apoptosis index more raised than controls they were always lower than primary normocelular MDS and primary hipercelular MDS, except for eritroblasts that were higher in primary hypocellular. The total apoptosis index was higher in initial stage of the disease independently of the bone marrow cellularity. Patients with del(11q) and del(17p) were associated with decreasing of total apoptosis index. Our results suggest that the hypocellularity of bone marrow is not caused by apoptosis process, but probably by probably some defect in cellular proliferation program.
Capizzi, Carmela. "Novel genomic technologies and molecular diagnostics in Colorectal Cancer". Doctoral thesis, Università di Catania, 2012. http://hdl.handle.net/10761/919.
Texto completoCoultas, 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/.
Texto completoMacdonald, Donald Hugh Charles. "Chromosome 13 abnormalities in myeloproliferative diseases". Thesis, Imperial College London, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.411308.
Texto completoBen, Amor Hanene. "Chromosome abnormalities in preimplantation bovine embryos". Thesis, McGill University, 2004. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=111790.
Texto completoStudies suggest that chromosomal abnormalities notably mosaicism consisting of normal and abnormal cells is a common feature observed in mammalian preimplantation embryos. The data on chromosome abnormalities in bovine embryos however, are limited. The principal aim of this study was to investigate chromosome abnormalities and their effect on the development of bovine embryos produced in vitro. 193 embryos were evaluated for chromosomal abnormalities, using dual fluorescent in situ hybridization (FISH) with developed DNA probes for X and Y chromosomes. Our results demonstrate that uniformly abnormal embryos were found mostly at the early cleavage stages, and embryos with extensive chromosome abnormalities were usually arrested by the morula stage. Chromosomal mosaicism was observed at the 2- cell stage and increased steadily with subsequent stages of development. By the blastocyst stage, chromosomal mosaicism was the main abnormality observed and affected 95% of the blastocysts. Most of the mosaic blastocysts comprised of diploid and tetraploid cells. In the second part, a detailed analysis of 121 day 7 and days 9-10 blastocysts, demonstrated that the proportion of polyploid cells in most of the morphologically good quality embryos was less than 15%, which was significantly lower than in poor quality embryos. [...]
II a ete suggere que des anomalies chromosomiques particulierement le mosaicism sont frequemment rencontres chez les embryons des bovins produit in vitro, cependant les donnees disponibles sont tres limitees. Le but principal de cette etude est d'evaluer les anomalies chromosomiques particulierement le mosaicism au different stades de developpement embryonnaire par FISH en utilisant des probes 'ADN pour les chromosomes X et Y. Nos resultats demontrent que des embryons uniformement anormales ont ete surtout trouves aux premiers stades de cleavage, temoignant que les embryons avec une vaste anomalie affectant la totalite des embryons sont souvent arretes au stade du morula. Le mosaicism chromosomique a ete rencontre dans tous les stades de developpement et il a augmente emarquablement pendant le developpement embryonnaire. Ainsi, au stade du blastocyst, le mosaicism chromosomique etait l'anomalie principale observee avec 95 % de blastocysts analyses devenant mosaiques. [...]
Anderlid, Britt-Marie. "Cryptic chromosome abnormalities in idiopathic mental retardation /". Stockholm : [Karolinska institutets bibl.], 2001. http://diss.kib.ki.se/2001/91-7349-097-0/.
Texto completoMorris, Joanna Siriol. "Chromosome abnormalities in breast cancer cell lines". Thesis, University of Cambridge, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.627324.
Texto completoHage, Mirella. "Mécanismes moléculaires impliqués dans la tumorigenèse et dans le comportement invasif des adénomes hypophysaires". Thesis, Université Paris-Saclay (ComUE), 2018. http://www.theses.fr/2018SACLS352.
Texto completoAbstractIn this work, we explored the molecular mechanisms of ectopic glucose-dependent insulinotropic polypeptide receptor (GIPR) expression in somatotroph adenomas from patients with acromegaly displaying a paradoxical GH increase to oral glucose. We showed that ectopic GIPR expression occurs through hypomorphic transcriptional activation of GIPR gene likely driven by DNA methylation changes. Activation of the cAMP pathway by postprandial GIP may represent an alternative tumorigenic mechanism in GIPR expressing somatotroph adenomas without driver mutations in GNAS oncogene. Cytogenetic profiling defined two groups of adenomas, a low-copy-number alteration (CNA) group and a high-CNA group.Two tumor samples displayed complex chromosomal rearrangements compatible with chromothripsis and showed subclonal architecture with up to six distinct cell population in each tumor, demonstrating an important intratumor heterogeneity.In a collection of invasive pituitary adenomas including the non-invasive intrasellar portions and the portions invading the cavernous sinuses, we showed by RNA-seq different gene expression profiles, providing supplemental evidence for the intratumoral heterogeneity in these benign tumors. Tumor samples from invasive portions showed up-regulation of the epithelial-mesenchymal transition pathway and increased expression of cancer stem-cell markers highlighting their potential role in pituitary tumor cell invasive behavior
Ashton, 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 completoGonçalves, Rozana Oliveira. "Alterações genéticas em casais com antecedentes de aborto recorrente no primeiro trimestre da gestação". Centro de Pesquisas Gonçalo Moniz, 2013. https://www.arca.fiocruz.br/handle/icict/7640.
Texto completoMade available in DSpace on 2014-05-22T16:14:32Z (GMT). No. of bitstreams: 1 Rozana Oliveira Gonçalves. Alterações... 2013.pdf: 539056 bytes, checksum: be74d5c934d4d2098ccee4e146563b3b (MD5) Previous issue date: 2013
Fundação Oswaldo Cruz. Centro de Pesquisa Gonçalo Moniz. Salvador, BA, Brasil
O abortamento é considerado um problema multifatorial, cujas principais causas envolvidas na sua etiologia são os fatores ambientais (como exposição a substâncias tóxicas), genéticos, anatômicos, endócrinos, imunológicos, trombofílicos e doenças infecciosas (como toxoplasmose, rubéola). No entanto, os fatores genéticos são atribuídos principalmente aos abortamentos de primeiro trimestre da gestação. As alterações cromossômicas, o polimorfismo C677T, no gene da metilenotetrahidrofolato redutase (MTHFR677C>T); o polimorfismo G1691A, no gene do Fator V de Leiden (FVL1691G>A), e o polimorfismo G20210A, no gene da protrombina (PRT20210G>A), têm sido associados a problemas obstétricos, incluindo aborto recorrente. O objetivo deste trabalho foi investigar associação entre as mutações relacionadas à trombofilia, presença de alterações cromossômicas e a ocorrência de aborto espontâneo recorrente e avaliar possíveis interações entre as referidas mutações e as alterações cromossômicas. A casuística foi composta por 151 mulheres com história de aborto recorrente, 94 parceiros e 100 controles (mulheres sem histórico de aborto). A investigação das mutações foi realizada pela técnica de Reação em Cadeia da Polimerase- Polimorfismo de Tamanho de Fragmento de Restrição. As alterações cromossômicas foram investigadas pela cariotipagem com banda–G. A frequência das alterações cromossômicas foi de 7,3% nas mulheres com abortamento recorrente e 1% nos controles (p=0,022), e de 2,1% nos parceiros. No entanto, a frequência dos alelos MTHR677C>T (23% versus 22,5%), FVL1691G>A (1,5% versus 1% ) e PRT20210G>A (1,45% versus 0%) foi similar entre casos e controles, respectivamente. No grupo investigado, foi observada associação entre aborto recorrente e alterações cromossômicas, mas não foi encontrada associação com os polimorfismos gênicos investigados.
Abortion is considered a multifactorial problem, the most important causes involved in its etiology are, environmental factors ( as exposure to toxic chemicals), genetic, anatomic, endocrine, immunological, thrombophilic and infectious diseases (such as toxoplasmosis, rubella). However, genetic factors are mainly attributed to abortions of the first trimester of pregnancy. Chromosomal abnormalities, MTHFR 677C>T, factor V Leiden 1691G>A and prothrombin 20210G>A mutations have been associated with obstetric problems, including recurrent miscarriage. The objective of this research was to investigate associations between mutations in three genes commonly associated to thrombophilic events, chromosomal abnormalities and the occurrence of recurrent miscarriage. As well evaluate possible interactions between these mutations and chromosomal abnormalities. The sample was comprised of 151 women with history of recurrent miscarriages, 94 partners and 100 control (women with no history of abortion). The investigation of the mutations was performed by Polymerase Chain Reaction (PCR)/ Restriction Fragment Length Polymorphism (RFLP). Chromosomal aberrations were investigated by karyotyping with G-banda. The frequency of chromosomal abnormalities was 7.3% in women with recurrent miscarriage and 1% in controls (p = 0.022), and 2.1% in the partners. However, the frequency of allele MTHR677C> T (23% versus 22.5%), FVL1691G> A (1.5% vs. 1%) and PRT20210G> A (1.45% vs. 0%) was similar for cases and controls, respectively. In the investigated group was found association between recurrent miscarriage and chromosomal abnormalities, but no association was found with the genetic polymorphisms investigated.
Zheng, Jianze. "Use of fluorescence in situ hybridization (FISH) for studying centromere organization and centric fusions in cattle". Title page, contents and abstract only, 1998. http://web4.library.adelaide.edu.au/theses/09A/09az63.pdf.
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