Ogata M, Iwasaki N, Ohgawara H, Karibe S, Omori Y
Diabetes Center, Tokyo Women's Medical College, Japan.
Diabetes Res Clin Pract. 1996 Jul;33(2):71-4. doi: 10.1016/0168-8227(96)01284-3.
Recent studies have shown both association and linkage between a Gly40-Ser mutation in the glucagon receptor gene and NIDDM in French patients with familial NIDDM. This mutation was present in heterozygous form in 4.6% of diabetic probands but only 1% of the French population, suggesting that it was an important risk factor in the development of NIDDM. A total of 348 unrelated Japanese subjects (220 with NIDDM, 53 with impaired glucose tolerance (IGT) and 75 normal subjects) were screened for the presence of the Gly40-Ser mutation. Seventy-two percent of the NIDDM patients and 52% of IGT subjects had a positive family history of NIDDM. The Gly40-Ser mutation, which could be readily detected in a positive control subject, was not found in any of the 348 Japanese subjects studied. Thus, the Gly40-Ser mutation does not play an important role in the pathogenesis of NIDDM in Japanese patients.
最近的研究表明，在患有家族性非胰岛素依赖型糖尿病（NIDDM）的法国患者中，胰高血糖素受体基因中的Gly40-Ser突变与NIDDM之间存在关联和连锁关系。在4.6%的糖尿病先证者中，这种突变以杂合形式存在，但在法国人群中仅为1%，这表明它是NIDDM发病的一个重要危险因素。对总共348名无亲缘关系的日本受试者（220名NIDDM患者、53名糖耐量受损（IGT）患者和75名正常受试者）进行了Gly40-Ser突变筛查。72%的NIDDM患者和52%的IGT受试者有NIDDM家族史阳性。在一名阳性对照受试者中能够轻易检测到的Gly40-Ser突变，在所研究的348名日本受试者中均未发现。因此，Gly40-Ser突变在日本患者NIDDM的发病机制中不发挥重要作用。
