title: Failure to detect Glut4-Ile383 and IR-Gln1152 variants in NIDDM (non-insulin dependent diabetes mellitus) and control subjects in an Italian population.
abstract: Insulin receptor (IR) and insulin-responsive glucose transporter (Glut4) represent two candidate genes involved in the development of non-insulin dependent diabetes mellitus (NIDDM); detection of molecular alterations in these genes might explain their possible contribution to NIDDM. Recently, mutations within the coding region of IR and Glut4 have identified: they include the Glut4Ile383 and IRGln1152 variants which were found at low frequencies in diabetic Caucasian populations. In this study Italian NIDDM patients and control subjects were analysed and mutated alleles were not found. Therefore in our population these variants appear to have little relevance to the genetic susceptibility to NIDDM.
authors: I.R.C.C.S. H S. Raffaele, Laboratorio Centrale, Milan, Italy.
authors: L
authors: L
authors: Esposito
authors: P
authors: P
authors: Carrera
authors: A E
authors: AE
authors: Pontiroli
authors: M
authors: M
authors: Ferrari
mesh_terms: D001483:Base Sequence; D017931:DNA Primers; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D051275:Glucose Transporter Type 4; D005973:Glutamine / Q000378:metabolism; D006801:Humans; D007532:Isoleucine / Q000378:metabolism; D007558:Italy; D008969:Molecular Sequence Data; D009004:Monosaccharide Transport Proteins / Q000235:genetics*; D009124:Muscle Proteins; D009154:Mutation; D011972:Receptor, Insulin / Q000235:genetics*
chemical_list: D017931:DNA Primers; D051275:Glucose Transporter Type 4; D009004:Monosaccharide Transport Proteins; D009124:Muscle Proteins; C495692:SLC2A4 protein, human; D007532:Isoleucine; D005973:Glutamine; D011972:Receptor, Insulin