Oda N, Nakai A, Fujiwara K, Imamura S, Fujita T, Hamagishi M, Kato T, Kobayashi T, Himeno Y, Yamamoto K, Makino M, Kakizawa H, Sawai Y, Itoh M, Nagasaka A
Department of Internal Medicine, Fujita Health University School of Medicine, Toyoake, Aichi, Japan.
Metabolism. 2001 Jun;50(6):631-4. doi: 10.1053/meta.2001.23283.
We have sequenced the insulin gene in 72 unrelated Japanese subjects (52 with type 2 diabetes mellitus and 20 with normal glucose tolerance). We identified 6 mutations and all were found at a low frequency (1% to 4%). Three mutations were new. These included a C-to-G substitution in the promoter region, a G-to-A substitution in codon-2 resulting in an Ala-to-Thr replacement in amino acid -2 of the signal peptide, and a G-to-A substitution in intron 2. We have no evidence that any of the mutations that we found are the cause of diabetes. Thus, mutations in the insulin gene do not appear to be an important genetic factor contributing to the development of diabetes in this population.
我们对72名无亲缘关系的日本受试者（52例2型糖尿病患者和20例糖耐量正常者）的胰岛素基因进行了测序。我们鉴定出6种突变，且所有突变的发生频率都很低（1%至4%）。其中3种突变为新发现的突变。这些突变包括启动子区域的C到G替换、密码子2处的G到A替换，导致信号肽第2位氨基酸由丙氨酸替换为苏氨酸，以及内含子2中的G到A替换。我们没有证据表明所发现的任何一种突变是糖尿病的病因。因此，在这一人群中，胰岛素基因突变似乎并非导致糖尿病发生的重要遗传因素。
