Variants of the HNF1a gene: a molecular approach concerning diabetic patients from southern Brazil

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-1a gene (HNF1a) MODY3, the aimof this study was to amplify and sequen...

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Bibliographic Details
Published in:Genetics and molecular biology 2012-01, Vol.35 (4), p.737-740
Main Author: BONATTO, Naieli
Format: Article
Language:English
Online Access:Get full text
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Summary: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-1a gene (HNF1a) MODY3, the aimof this study was to amplify and sequence the coding regions of this gene in seven patients from the Campos Gerais region, Parana 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.
ISSN:1415-4757
DOI:10.1590/S1415-47572012005000061