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目的 确定中国人胰岛素受体底物 - 1基因变异是否与 2型糖尿病相关。方法 用聚合酶链反应 -单链构象多态性分析方法筛选了 6 8例中国人 2型糖尿病患者和 6 8例正常对照组的胰岛素受体底物 - 1基因的 +170 0～ +4 437bp片段。再将单链构象多态性有改变的全部片段进行 DNA序列分析。结果 发现 2种出现氨基酸变化的核苷酸变异[GGG→ AGG(G971 R)和 CCT→ TCT(P1 0 79S) ]和 3种无声变异 [GAT→ GAC(D42 2 D)、CCA→ CCC(P737P)和 GCA→ GCG(A80 4A) ],其中 CCA→CCC(P737P)和 CCT→ TCT(P1 0 79S) ]是首次报道。这 5种核苷酸变异均在 2型糖尿病患者中发现 ,而在正常对照组中只发现 GCA→ GCG(A80 4A)。中国人 2型糖尿病患者这 5种变异的发生频率远高于正常对照组(38.2 % vs7.4% ,χ2 =18.42 ,P<0 .0 1)。最常见的多态性是 GCA→GCG(A80 4A) ,在 2型糖尿病患者中它的发生率远高于正常对照组 (2 6 .5 % vs7.4% ,2 =8.84,P <0 .0 1)。在 2型糖尿病患者和正常对照组中 ,该变异的纯合子发生率分别为 8.8%和 1.5 % (χ2 =2 .41,P >0 .0 5 )。结论 胰岛素受体底物 - 1基因的核苷酸变异可能与中国人 2型糖尿病的发生有相关性。
Objective To determine if the Chinese insulin receptor substrate-1 gene mutation is associated with type 2 diabetes. Methods Polymorphisms of +170 0 to +4 437 bp of insulin receptor substrate - 1 gene in 68 Chinese patients with type 2 diabetes mellitus and 68 normal controls were screened by polymerase chain reaction - single strand conformation polymorphism. Fragment. All fragments with single-strand conformational polymorphism were analyzed by DNA sequence analysis. The results showed that there were two kinds of nucleotide variation with amino acid variation [GGG → AGG (G971 R) and CCT → TCT (P1 0 79S)] and three silent mutations [GAT → GAC (D42 2 D), CCA → CCC ) And GCA → GCG (A80 4A)] with CCA → CCC (P737P) and CCT → TCT (P1 079S)] were first reported. All five nucleotide variations were found in patients with type 2 diabetes mellitus, whereas only GCA → GCG (A80 4A) was found in the normal control group. The frequency of these five mutations in Chinese type 2 diabetic patients was much higher than that in the normal controls (38.2% vs 7.4%, χ2 = 18.42, P <0.01). The most common polymorphism was GCA → GCG (A80 4A), and its incidence was much higher in patients with type 2 diabetes than in controls (26.5% vs 7.4%, 2 = 8.84, P <0). 0 1). In patients with type 2 diabetes and normal controls, the homozygotes for this variation were 8.8% and 1.5%, respectively (χ2 = 2.41, P> 0.05). Conclusion The nucleotide variation of insulin receptor substrate - 1 gene may be related to the occurrence of type 2 diabetes in Chinese.