RESUMEN

Maturity-onset diabetes of the young type 2 (MODY2) is a genetic form of diabetes mellitus caused by mutations in the glucokinase gene (GCK). We assessed the frequency of GCK gene mutations in Jordanian suspected MODY2 patients. We screened exons 7, 8 and 9, which are specific for pancreatic glucokinase, for mutations at positions 682A>G, p.T228A; 895G>C, p.G299R, and 1148C>A, p.S383X, respectively, in 250 subjects (100 patients suspected to have MODY2 and 150 healthy controls without family history of diabetes mellitus). We did not find any association of these mutations in Jordanian suspected MODY2 patients or in healthy controls, different from data on Caucasian Italian patients screened for the same mutations.

Asunto(s)

Diabetes Mellitus Tipo 2/genética , Glucoquinasa/genética , Adolescente , Adulto , Análisis Mutacional de ADN , Femenino , Predisposición Genética a la Enfermedad/genética , Humanos , Jordania , Masculino , Mutación , Adulto Joven