Esposito L, Carrera P, Pontiroli A E, Ferrari M
I.R.C.C.S. H S. Raffaele, Laboratorio Centrale, Milan, Italy.
Hum Genet. 1995 Jan;95(1):115-6. doi: 10.1007/BF00225088.
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.
胰岛素受体(IR)和胰岛素反应性葡萄糖转运蛋白(Glut4)是参与非胰岛素依赖型糖尿病(NIDDM)发病的两个候选基因;检测这些基因中的分子改变可能有助于解释它们在NIDDM发病中可能发挥的作用。最近,已在IR和Glut4的编码区域内鉴定出突变:其中包括Glut4Ile383和IRGln1152变异体,这些变异体在糖尿病白种人群中的出现频率较低。在本研究中,对意大利NIDDM患者和对照受试者进行了分析,未发现突变等位基因。因此,在我们的人群中,这些变异体似乎与NIDDM的遗传易感性关系不大。