HNF1 alpha gene coding regions mutations screening, in a Caucasian population clinically characterized as MODY from Argentina

• Published in: Diabetes research and clinical practice Vol. 91; no. 2; pp. 208 - 212
• Main Authors: Lopez, Ariel Pablo, Foscaldi, Sabrina Andrea, Perez, Maria Silvia, Rodriguez, Martín, Traversa, Mercedes, Puchulu, Félix Miguel, Bergada, Ignacio, Frechtel, Gustavo Daniel
• Format: Journal Article
• Language: English
• Published: Ireland Elsevier Ireland Ltd 01.02.2011
• Subjects: Adolescent; Adult; Argentina; Child; Child, Preschool; Diabetes; Diabetes Mellitus, Type 2 - genetics; electrophoresis; Endocrinology & Metabolism; European Continental Ancestry Group; Female; genes; Genetic Predisposition to Disease; Hepatocyte Nuclear Factor 1-alpha - genetics; HNF1 alpha; Humans; insulin; insulin secretion; Male; MODY 3; Mutation; noninsulin-dependent diabetes mellitus; patients; screening; single-stranded conformational polymorphism; transcription factors; Whites; Young Adult; Argentina; Diabetes; Mutation; MODY 3; HNF1 alpha

There are at least six subtypes of Maturity Onset Diabetes of the Young (MODY) with distinctive genetic causes. MODY 3 is caused by mutations in HNF1A gene, an insulin transcription factor, so mutations in this gene are associated with impaired insulin secretion. MODY 3 prevalence differs according...