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
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References
Barnett AH, Eff C, Leslie RDG, Pyke DA (1981) Diabetes in identical twins: a study of 200 pairs. Diabetologia 20:87–93
Choi WH, O'Rahilly S, Buse JB, Rees A, Morgan R, Flier JS, Moller DE (1991) Molecular scanning of insulin-responsive glucose transporter (Glut4) gene in NIDDM subjects. Diabetes 40:1712–1718
Cocozza S, Porcellini A, Riccardi G, Monticelli A, Condorelli G, Ferrara A, Pianese L, Miele C, Capaldo B, Beguinot F, Varrone S (1992) NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene. Diabetes 41:521–526
Krook A, Stratton IM, O'Rahilly S (1992) Rapid and simultaneous detection of multiple mutations by pooled and multiplex single nucleotide primer extension: application to the study of insulinresponsive glucose transporter and insulin receptor mutations in non-insulin-dependent diabetes Hum Mol Genet 1:391–395
Kusari J, Verma US, Buse JB, Henry RR, Olefsky JM (1991) Analysis of the gene sequences of the insulin receptor and the insulin-sensitive glucose transporter (Glut-4) in patients with common type non insulin dependent diabetes mellitus. J Clin Invest 88:1323–1330
Magnani C, Capra F, Calderara A, Bonini PA, Taramelli R, Ferrari M, Pontiroli AE (1992) Type 2 (non-insulin-dependent) diaetes mellitus and glucose transporter gene (Glut1 and Glut4) polymorphism. Acta Diabetol 29:110–112
Seino S, Seino M, Bell GI (1990) Human insulin-receptor gene. Partial sequence and amplification of exons by polymerase chain reaction. Diabetes 39:123–128
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Esposito, L., Carrera, P., Pontiroli, A.E. et al. Failure to detect Glut4-Ile383 and IR-Gln1152 variants in NIDDM (non-insulin dependent diabetes mellitus) and control subjects in an Italian population. Hum Genet 95, 115–116 (1995). https://doi.org/10.1007/BF00225088
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DOI: https://doi.org/10.1007/BF00225088