与人类胰岛素基因相关的多态性：在日本人中其与胰岛素依赖型糖尿病或非胰岛素依赖型糖尿病均无关联。

The polymorphism linked to the human insulin gene: its lack of association with either IDDM or NIDDM in Japanese.

作者信息

Takeda J, Seino Y, Fukumoto H, Koh G, Otsuka A, Ikeda M, Kuno S, Yawata M, Moridera K, Morita T

出版信息

Acta Endocrinol (Copenh). 1986 Oct;113(2):268-71. doi: 10.1530/acta.0.1130268.

DOI:10.1530/acta.0.1130268

Abstract

Polymorphism of 5' portion of the human insulin gene was examined in 188 unrelated Japanese subjects (49 normal, 71 with IDDM, and 68 with NIDDM) using restriction endonuclease analysis. Restriction fragments were classified according to the insertion size: Class 1 (600 base pairs), Class 2 (1300 base pairs), and Class 3 (2000 base pairs). We found a very high frequency of Class 1 alleles (96.8%) and a low frequency of both Class 2 (0.8%) and Class 3 alleles (2.4%) and that approximately 94% of the genotypes were Class 1/Class 1 homozygote. In addition, there was no correlation of allelic or genotypic frequency with NIDDM or IDDM. We conclude that length polymorphism of the human insulin gene cannot be a useful marker for diabetes in Japanese.

摘要

利用限制性内切酶分析法，对188名无亲缘关系的日本受试者（49名正常人、71名胰岛素依赖型糖尿病患者和68名非胰岛素依赖型糖尿病患者）的人类胰岛素基因5'端多态性进行了检测。限制性片段根据插入大小进行分类：1类（600个碱基对）、2类（1300个碱基对）和3类（2000个碱基对）。我们发现1类等位基因的频率非常高（96.8%），2类（0.8%）和3类等位基因的频率较低（2.4%），并且约94%的基因型为1类/1类纯合子。此外，等位基因或基因型频率与非胰岛素依赖型糖尿病或胰岛素依赖型糖尿病无相关性。我们得出结论，人类胰岛素基因的长度多态性不能作为日本人糖尿病的有用标志物。