Author(s): Naieli Bonatto | Viviane Nogaroto | Paulo V. Svidnicki | Fábio Q. Milléo | Sabrina Grassiolli | Mara C. Almeida | Marcelo R. Vicari | Roberto F. Artoni
Journal: Genetics and Molecular Biology
ISSN 1415-4757
Volume: 35;
Issue: 4;
Start page: 737;
Date: 2012;
Original page
Keywords: MODY3 | molecular diagnosis | diabetes mellitus | nucleotide sequencing
ABSTRACT
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.
Journal: Genetics and Molecular Biology
ISSN 1415-4757
Volume: 35;
Issue: 4;
Start page: 737;
Date: 2012;
Original page
Keywords: MODY3 | molecular diagnosis | diabetes mellitus | nucleotide sequencing
ABSTRACT
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.
