Chromosome Breakage
Mostrando 1-12 de 177 artigos, teses e dissertações.
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1. Haplótipos de diferentes SNPs no interior do gene EWS em indivíduos afetados e não-afetados pelo sarcoma de Ewing
Ewings sarcoma was first described by James Ewing in 1921 and it is the second most common bone tumor in children and young adults. Both chromosomal breakage and translocation occur in this sarcoma. The EWS gene is localized in chromosome 22 and is involved in this translocation. However, little is known about this gene breaking region and what sequences cou
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 30/03/2012
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2. Micronucleated lymphocytes in parents of Down syndrome children
Down syndrome (DS) is the most common disease due to an autosomal aneuploidy in live born children and also the major known genetic cause of mental retardation. The risk of a DS pregnancy increases substantially with increasing maternal age. However, several women aged less than 35 years at conception have a child with DS. The micronucleus (MN) assay can ide
Brazilian Journal of Medical and Biological Research. Publicado em: 2012-07
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3. Teste dos micronúcleos : um biomarcador de dano genotóxico em células descamadas da mucosa bucal = Micronucleus assay : a biomarker of genotoxic damage in exfoliated oral mucosa cells / Micronucleus assay : a biomarker of genotoxic damage in exfoliated oral mucosa cells
O objetivo deste trabalho é fazer uma revisão de literatura a respeito do ensaio dos micronúcleos, explicando o seu significado e sua aplicação em células esfoliadas da mucosa bucal. Micronúcleo (MN) é um núcleo acessório, originado a partir de fragmentos de cromossomo ou de cromossomos inteiros que não são incluídos no núcleo principal durante
Publicado em: 2010
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4. FANCD2 Western blot as a diagnostic tool for Brazilian patients with Fanconi anemia
Fanconi anemia is a rare hereditary disease showing genetic heterogeneity due to a variety of mutations in genes involved in DNA repair pathways, which may lead to different clinical manifestations. Phenotypic variability makes diagnosis difficult based only on clinical manifestations, therefore laboratory tests are necessary. New advances in molecular patho
Brazilian Journal of Medical and Biological Research. Publicado em: 2009-03
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5. Research on the mechanisms of subtelomeric rearrangements in monosomy 1p36, extension of the spectrum of phenotypic and behavioral variability, diferential diagnosis and characterization of a critical region for obesity / Pesquisa dos mecanismos de rearranjos cromossômicos subteloméricos na monossomia 1p36, expansão do espectro da variabilidade fenotípica e comportamental, diagnósticos diferenciais e caracterização de uma região crítica para obesidade
Subtelomeric abnormalities are an important cause of mental retardation and birth defects. The mechanisms involved in the formation of subtelomeric rearrangements are now beginning to be elucidated. Breakpoint sequencing analysis of 1p36 rearrangements has revealed prevalence of different nonexclusive recombination-repair mechanisms. Rearrangements of 1p36 a
Publicado em: 2009
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6. Lack of clastogenic effects of L-thyroxine in whole-blood cultured human lymphocytes
Thyroid hormones stimulate aerobic metabolism which may lead to oxidative stress accompanied by damage to various cellular macromolecules, including DNA. Previous comet assay studies have shown that thyroid hormones cause DNA damage due to the creation of reactive oxygen species (ROS). However, cytogenetic studies have been equivocal because although an incr
Genetics and Molecular Biology. Publicado em: 2007
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7. Fragility in the 14q21q translocation region
Aphidicolin (APC)-induced chromosomal breakage was analyzed for women representing three generations of a single family and carrying a Robertsonian translocation rob(14q21q). Fluorescence in situ hybridization (FISH) analysis confirmed the dicentric constitution of the derived chromosome and indicated the absence of beta-satellite signal at the translocation
Genetics and Molecular Biology. Publicado em: 2002
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8. Molecular evidence that chromosome breakage by Ds elements is caused by aberrant transposition.
The transposable Dissociation (Ds) element of maize was first discovered as a site of high-frequency chromosome breakage. Because both Ds-mediated breakage and transposition require the presence of the Activator (Ac) element, it has been suggested that chromosome breakage may be the outcome of an aberrant transposition event. This idea is consistent with the
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9. Clinical and cytogenetic diversity in Fanconi's anaemia.
Abnormally high levels of spontaneous and mitomycin C or diepoxybutane induced chromosome breakage were observed in lymphocytes from eight out of nine previously undescribed patients clinically diagnosed as having Fanconi's anaemia. The results suggest that the combination of spontaneous and induced chromosome breakage is a good aid in the differential diagn
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10. Chromosome breakage at a major fragile site associated with P-glycoprotein gene amplification in multidrug-resistant CHO cells.
Recent studies of several drug-resistant Chinese hamster cell lines suggested that a breakage-fusion-bridge mechanism is frequently involved in the amplification of drug resistance genes. These observations underscore the importance of chromosome breakage in the initiation of DNA amplification in mammalian cells. However, the mechanism of this breakage is un
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11. A long stringent sequence signal for programmed chromosome breakage in Tetrahymena thermophila
Programmed chromosome breakage occurs at 50–200 specific sites in the genome of Tetrahymena thermophila during somatic nuclear (macronuclear) differentiation. Previous studies have identified a 15 bp sequence, the Cbs (for chromosome breakage sequence), that is necessary and sufficient to specify these sites. In this study we determined the effects of muta
Oxford University Press.
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12. New telomere formation coupled with site-specific chromosome breakage in Tetrahymena thermophila.
Programmed chromosome breakage occurs in many ciliated protozoa and is accompanied by efficient new telomere formation. In this study, we have investigated the relationship between programmed chromosome breakage and telomere formation in Tetrahymena thermophila. Using specially constructed DNA clones containing the breakage signal Cbs in transformation studi