1,2S. Cabrera Vázquez, 1V. Fragoso Ontiveros, 1A. Domínguez López, 1T. Guerra García, 3F. Escobedo Aguirre, 1S. Ramírez Jiménez, 1M. Rodríguez Torres, 1L. Riba, 1M.T. Tusie Luna
1Departamento de Biomedicina Molecular CINVESTAV, México D.F, 2Unidad de Biología Molecular y Medicina Genómica del Instituto de Investigaciones Biomédicas de la Universidad Nacional Autónoma de México y del Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán. México D.F., Vasco de Quiroga 15 Colonia Sección 16. Tlalpan 14000. México D.F., 3CMN 20 de Noviembre ISSSTE, México D.F.
Gestational diabetes (GD) is defined as glucose intolerance detected for the first time during pregnancy. Mutations in genes encoding glucokinase, IPF-1 and TCF1 have been described in German and Swiss women with GD. Nevertheless, it is not known whether these genes participate in the etiology of GD in Mexican population. These three genes have been linked to the development of the monogenic form of diabetes type 2 known as MODY (maturity-onset diabetes of the young). MODY is characterized by an early age of onset, an autosomal dominant pattern of inheritance and a defect in insulin secretion. Through PCR-SSCP analysis and automated sequencing we evaluated the participation of glucokinase, IPF-1 and TCF1 genes in a cohort of 75 Mexican women with GD. We identified one heterozygous sequence change (G574S) in exon 9 of TCF1 in a woman with a family history consistent with MODY. Both of her daughters (ages 14 and 2) inherited the substitution. This change has been related to diabetes susceptibility in early-onset diabetes patients of African origin. Several polymorphisms in the TCF1 gene were also identified (L17lL, G288G, L459L, N487S, IVS9nt+7G>A and T515T), none of which seems to be associated to diabetes susceptibility either by themselves or as part of a haplotype. The partial analysis of the glucokinase gene revealed a intronic change IVS9nt+7 T>C in one of the 75 patients. This intronic substitution has been related to diabetes susceptibility in type 2 diabetes patients of African descent. No mutations were found in IPF-1 in our patients. Altogether our results indicate that these three genes do not have a major contribution to the etiology of GD in Mexican patients.
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