Chromosome Variability
Mostrando 25-36 de 204 artigos, teses e dissertações.
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25. Diversidade genética em populações de Plasmodium vivax: análise de marcadores genéticos neutros e de genes potencialmente associados à resistência a drogas. / Genetic diversity of Plasmodium vivax populations: analysis of neutral genetic markers and genes potentially associated with drug resistance.
Through the analysis of microsatellites and SNPs, including both neutral and under selection markers, this work showed that: 1) The Brazilian populations of P. vivax (Pv) are more diverse than sympatric P. falciparum (Pf) populations, but both exhibit linkage disequilibrium. 2) For both species, neutral polymorphisms showed high variability over time, contra
Publicado em: 2010
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26. DNA tests probe the genomic ancestry of Brazilians
We review studies from our laboratories using different molecular tools to characterize the ancestry of Brazilians in reference to their Amerindian, European and African roots. Initially we used uniparental DNA markers to investigate the contribution of distinct Y chromosome and mitochondrial DNA lineages to present-day populations. High levels of genetic ad
Brazilian Journal of Medical and Biological Research. Publicado em: 11/09/2009
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27. Synteny of human chromosomes 14 and 15 in the platyrrhines (Primates, Platyrrhini)
In order to study the intra- and interspecific variability of the 14/15 association in Platyrrhini, we analyzed 15 species from 13 genera, including species that had not been described yet. The DNA libraries of human chromosomes 14 and 15 were hybridized to metaphases of Alouatta guariba clamitans, A. caraya, A. sara, Ateles paniscus chamek, Lagothrix lagoth
Genetics and Molecular Biology. Publicado em: 28/08/2009
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28. 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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29. Karyotype and genome size of Iberochondrostoma almacai (Teleostei, Cyprinidae) and comparison with the sister-species I. lusitanicum
This study aimed to define the karyotype of the recently described Iberian endemic Iberochondrostoma almacai, to revisit the previously documented chromosome polymorphisms of its sister species I. lusitanicum using C-, Ag-/CMA3 and RE-banding, and to compare the two species genome sizes. A 2n = 50 karyotype (with the exception of a triploid I. lusitanicum sp
Genetics and Molecular Biology. Publicado em: 2009
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30. Estudo do perfil de expressão gênica na distrofia muscular fácio-escápulo-umeral (FSH) / Study of gene expression profile in facioscapulohumeral muscular dystrophy (FSHD)
FSHD is characterized by a great clinical inter and intrafamilial variability. Approximately 10-20% of patients eventually becoming wheelchair-bound while 20-30% with a shortened D4Z4 array, remains asymptomatic or minimally affected. Interestingly, these cases seem to be concentrated in some particular families, suggesting that some mechanism might be actin
Publicado em: 2009
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31. Avaliação clínico-laboratorial de pacientes com síndrome de Kabuki / Clinical and laboratorial evaluation of patients with Kabuki syndrome
INTRODUCTION: Kabuki syndrome (KS) is a genetic disease which cardinal manifestations are: facial dysmorfism, short stature of postnatal onset, skeletal abnormalities, mental retardation and abnormal dermatolyphics. Beside these manifestations, abnormalities of every organ system, has been described. The diagnosis is clinical. OBJECTIVES: The objective is to
Publicado em: 2009
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32. Analise molecular do loco C4/CYP21 : impacto da variabilidade alelica provocada por recombinações sobre os metodos de avaliação de mutações / Molecular analysis of C4/CYP21 locus : influence of allelic variability caused by recombinations on current methods of mutation detection
Congenital adrenal hyperplasia is caused by deficiency of one of the five enzymes responsible for cortisol synthesis in the steroidogenesis. More than 90% of the cases occur due to deficiency of 21-hidroxilase (21-OH). The haploid human genome bears two copies in tandem of 21-OH coding gene, CYP21A2 and CYP21A1P. Although the two copies are approximately 98%
Publicado em: 2009
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33. AvaliaÃÃo de aberraÃÃes cromossÃmicas em bovinos (Bos taurus taurus) infectados pelo papilomavÃrus bovino
Bovine papillomavirus (BPV) is represented by 10 papillomavirus subtypes, epiteliotropic or mucosotropic, which are transmitted among bovines through contaminated blood and ephitelial contact. This virus may be in a latent form on host lymphocytes, triggering chromosomal instabilities. In this context, this study aimed to evaluate chromosomal aberrations whi
Publicado em: 2009
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34. 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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35. Association of a locus on rat chromosome 4 with anxiety-related behaviors in two selectively bred rat lines
The Floripa H and L rat lines, selected for high and low locomotion in the central aversive area of an open field, a widely used emotionality test, were proposed as a model for studying the genetic basis of anxiety. The present study aimed to verify if the QTL Ofil1, mapped to rat chromosome 4 and previously identified as being related to emotionality in ano
Genetics and Molecular Biology. Publicado em: 2008-12
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36. Citogenética evolutiva en Leguminosas americanas
ABSTRACT Chromosomic features described so far for Americans legumes are reviewed and analyzed, simultaneously with morphological and molecular characters. This is an invaluable opportunity to propose hypotheses about chromosome changes during the family divergence and speciation processes. The chromosome studies showed wide inter-generic, inter and intra-sp
Rodriguésia. Publicado em: 2008-07