Chromosomal Breakpoints
Mostrando 1-12 de 176 artigos, teses e dissertações.
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1. Three decades of studies on chromosomal polymorphism of Drosophila willistoni and description of fifty different rearrangements
Drosophila willistoni (Insecta, Diptera) is considered a paradigm for evolutionary studies. Their chromosomes are characterized by multiple paracentric inversions that make it hard to identify and describe chromosomal poly-morphisms. In the present report we attempted to systematize the description of all the 50 inversions found in the last three decades, si
Genet. Mol. Biol.. Publicado em: 2012
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2. Characterization of chromosome rearrangements in patients with multiple congenital malformation and/or mental retardation (MCM/MR) / Caracterização de rearranjos cromossômicos em pacientes com malformações congênitas múltiplas e/ou retardamento mental (MCA/MR)
Two apparently "de novo" balanced translocations and one duplication of the short arm of chromosome 20 were studied. Our aim was to determine the breakpoints by chromosomal analysis through fluorescentin situ hybridization (FISH) and identify candidate genes and how they were involved with the clinical phenotypes of the patients. Patient 1 carried a duplicat
Publicado em: 2008
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3. The mechanisms of formation and clinical effects of two chromosomal deletions: del(X)(p11.23) e del(8)(p23.1) / Os mecanismos de formação e os efeitos clínicos de duas deleções cromossômicas: del(X)(p11.23) e del(8)(p23.1)
As alterações cromossômicas estruturais associadas a fenótipos clínicos oferecem a oportunidade de identificação de genes cujas mutações possam estar determinando essas patologias, tendo em vista a possibilidade de que esses genes podem ter sido alterados pelas quebras ou ter o número de cópias modificado. Um número cada vez maior de evidências
Publicado em: 2007
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4. Cytogenetics investigation on orofacial cleft individuals and screening of informative cases for further studies / Investigação citogenetica em individuos com fendas orofaciais e triagem dos casos informativos para estudos especificos
Cleft lip with or without cleft palate (CL/P) occurs in approximately 1/500 to 1/1000 newborns and cleft palate (CP), etiologically distinct, in approximately 0,4/1000 newborns. They have a complex etiology, and the great majority of clefts appear to be isolated anomalies, in which have been observed a very important genetic component. However, in a signific
Publicado em: 2007
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5. Polytene chromosome map and inversion polymorphism in Drosophila mediopunctata
Drosophila mediopunctata belongs to the tripunctata group, and is one of the commonest Drosophila species collected in some places in Brazil, especially in the winter. A standard map of the polytene chromosomes is presented. The breakpoints of the naturally occurring chromosomal rearrangements are marked on the map. The distribution of breaking points throug
Memórias do Instituto Oswaldo Cruz. Publicado em: 2002-07
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6. Distinct nonrandom patterns of chromosomal deletions in giant-cell lesions of bone
Cytogenetic analyses were performed on a bone giant cell reparative granuloma (GCRG) and on three bone giant cell tumors (GCT). The present GCRG case is the second to be described cytogenetically. A modal chromosome number of 46 was observed in all samples. Clonal chromosome abnormalities were detected in all cases. The numerical alterations most frequently
Genetics and Molecular Biology. Publicado em: 2002
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7. A Selective Screen to Recover Chromosomal Deletions and Duplications in Drosophila Melanogaster
A screen is described that will select for breakpoints within a restricted chromosomal region in Drosophila. The aberrations recovered can be used to construct chromosomes carrying synthetic duplications and deletions. Such chromosomes have applications in the mapping of complementation groups at both the genetic and molecular level. In particular, breakpoin
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8. Mobile elements and chromosomal evolution in the virilis group of Drosophila
Species of the virilis group of Drosophila differ by multiple inversions and chromosome fusions that probably accompanied, or led to, speciation. Drosophila virilis has the primitive karyotype for the group, and natural populations are exceptional in having no chromosomal polymorphisms. We report that the genomic locations of Penelope and Ulysses trans
The National Academy of Sciences.
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9. Association of a Drosophila transposable element of the roo family with chromosomal deletion breakpoints.
A 9.3 kb transposable element of the roo family has been found inserted 3' to the Sgs-4 glue protein gene of Drosophila. The X chromosome which carries this insert also carries wDZL, a dominant, unstable allele of the white locus caused by the insertion of the 13 kb wDZL element. Three deletions isolated from the wDZL strain have molecular breakpoints 3' to
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10. Different regions of the immunoglobulin heavy-chain locus are involved in chromosomal translocations in distinct pathogenetic forms of Burkitt lymphoma.
We show that endemic (eBL), sporadic (sBL), and acquired immunodeficiency syndrome-associated (AIDS-BL) forms of Burkitt lymphoma (BL) carrying t(8;14) chromosomal translocations display different breakpoints within the immunoglobulin heavy-chain locus (IGH) on chromosome 14. In sBL (7 out of 11) and AIDS-BL (5 out of 6), the breakpoints occurred within or n
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11. Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16
Analyses of chromosomal rearrangements that have occurred during the evolution of the hominoids can reveal much about the mutational mechanisms underlying primate chromosome evolution. We characterized the breakpoints of the pericentric inversion of chimpanzee chromosome 18 (PTR XVI), which is homologous to human chromosome 16 (HSA 16). A conserved 23-kb inv
Cold Spring Harbor Laboratory Press.
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12. Molecular Characterization of the Breakpoints of an Inversion Fixed between Drosophila Melanogaster and D. Subobscura
The two breakpoints of a chromosomal inversion fixed since the split of Drosophila melanogaster and D. subobscura lineages have been isolated and sequenced in both species. The regions spanning the breakpoints initially were identified by the presence of two signals after interspecific in situ hybridization on polytene chromosomes. Interspecific comparison o