Tokuyama Y, Kanatsuka A, Suzuki Y, Yamaguchi T, Taira M, Makino H, Yoshida S
Second Department of Internal Medicine, Chiba University School of Medicine, Japan.
Diabetes Res Clin Pract. 1994 Jan;22(2-3):99-105. doi: 10.1016/0168-8227(94)90042-6.
Aberrant expression of the IAPP gene may be involved in the pathogenesis and islet amyloid formation of type 2 (non-insulin dependent) diabetes mellitus. We sequenced 536 basepairs in the 5'-upstream sequence of the gene of 35 Japanese with this disease and 3 patients with maturity-onset diabetes in the young. The sequences corresponding to both alleles of the gene were identical to one another and to the sequence of subjects without diabetes mellitus except for one allelic variation of 'A' and 'C' at the position -230. Analysis by allele specific polymerase chain reaction revealed no significant difference in frequency of the variation at this position between normal and type 2 diabetic subjects. We conclude that the 5' region of the IAPP gene is highly conserved and only 1 DNA polymorphism is detected and that this polymorphism does not associate with type 2 diabetes mellitus.
胰岛淀粉样多肽（IAPP）基因的异常表达可能参与了2型（非胰岛素依赖型）糖尿病的发病机制和胰岛淀粉样变的形成。我们对35名患有该病的日本人和3名青年成熟期糖尿病患者的该基因5'上游序列中的536个碱基对进行了测序。该基因两个等位基因对应的序列彼此相同，且与非糖尿病患者的序列相同，只是在-230位置存在“A”和“C”的一个等位基因变异。等位基因特异性聚合酶链反应分析显示，正常人和2型糖尿病患者在该位置变异频率上无显著差异。我们得出结论，IAPP基因的5'区域高度保守，仅检测到1个DNA多态性，且该多态性与2型糖尿病无关。
