Variants of the HNF1α gene: a molecular approach concerning diabetic patients from southern Brazil

Genetics and Molecular Biology

Naieli Bonatto²  Viviane Nogaroto¹  Paulo V. Svidnicki¹  Fábio Q. Milléo¹  Sabrina Grassiolli¹  Mara C. Almeida¹  Marcelo R. Vicari¹  Roberto F. Artoni¹ 

[1] ,Universidade Federal do Paraná Departamento de Genética Programa de Pós-Graduação em GenéticaCuritiba PR ,Brazil

关键词: MODY3;    molecular diagnosis;    diabetes mellitus;    nucleotide sequencing;   

DOI  :  10.1590/S1415-47572012005000061

来源: SciELO

【 摘 要 】

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 this study, this corroborating with the literature. We found certain DNA variations that could explain the hyperglycemic phenotype of the patients.

【 授权许可】

CC BY   
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