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Variants of the HNF1α gene: a molecular approach concerning diabetic patients from southern Brazil Genet. Mol. Biol.
Bonatto,Naieli; Nogaroto,Viviane; Svidnicki,Paulo V.; Milléo,Fábio Q.; Grassiolli,Sabrina; Almeida,Mara C.; Vicari,Marcelo R.; Artoni,Roberto F..
Maturity Onset Diabetes of the Young (MODY) presents monogenic inheritance and mutation factors which have already been identified in six different genes. Given the wide molecular variation present in the hepatocyte nuclear factor-1α gene (HNF1α) MODY3, the aimof this study was to amplify and sequence the coding regions of this gene in seven patients from the Campos Gerais region, Paraná State, Brazil, presenting clinical MODY3 features. Besides the synonymous variations, A15A, L17L, Q141Q, G288G and T515T, two missense mutations, I27L and A98V, were also detected. Clinical and laboratory data obtained from patients were compared with the molecular findings, including the I27L polymorphism that was revealed in some overweight/obese diabetic patients of...
Tipo: Info:eu-repo/semantics/article Palavras-chave: MODY3; Molecular diagnosis; Diabetes mellitus; Nucleotide sequencing.
Ano: 2012 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000500005
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Karyotype analysis of three species of Corydoras (Siluriformes: Callichthyidae) from southern Brazil: rearranged karyotypes and cytotaxonomy Neotropical Ichthyology
Barbosa,Patrícia; Pucci,Marcela B.; Nogaroto,Viviane; Almeida,Mara C.; Artoni,Roberto F.; Vicari,Marcelo R..
ABSTRACT The genus Corydoras comprises a diversity of species with different diploid numbers. We compared cytogenetic data among Corydoras species from different rivers of the Ponta Grossa Arch region in southern Brazil. Corydoras ehrhardti and C. aff. paleatus have a similar karyotype formula and the same diploid number (2n = 44). Corydoras lacrimostigmata has a higher diploid number, with 2n = 58 chromosomes. Fluorescence in situ hybridization using 5S and 18S ribosomal DNA probes suggests that these ribosomal DNA sequences are involved in chromosomal rearrangements in these Corydoras species. 5S rDNA is a chromosomal marker that is considered to be unique to the species analyzed in this study. Signals of interstitial telomeric sites are seen in a...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Cytosystematics; Heterokaryotypes; Karyotype description; RDNA; Vicariance.
Ano: 2017 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1679-62252017000100222
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