目的 :为了解胰岛素抵抗产生机制。方法 :对患有黑棘皮病的患者应用单链构型多态性 (SSCP)和DNA直接测序手段 ,进行了胰岛素受体基因 1 7、2 0外显子的检测工作。结果 :在 9个黑棘皮病家系中 (9名病人 2 3位一级亲 ) ,共 1 4个异常SSCP图型出现 ,经直接测序确认 ,其中有 7个是错义突变 ,6个为沉默多态性 ,在 7个错义突变中 ,5个为国际上首次报道(已在第 5届中日糖尿病会议及第 1 6届国际糖尿病联合会大会报告 )结论 :胰岛素受体基因突变致胰岛素抵抗。 Objective: To understand the mechanism of insulin resistance. Methods: The single nucleotide polymorphism (SSCP) and direct DNA sequencing were used to detect the exon 1 7, 2 of insulin receptor gene in patients with acanthosis nigricans. Results: In 9 families of acanthosis nigricans (9 patients with 23 primary first-degree relatives), 14 abnormal SSCP patterns appeared and confirmed by direct sequencing. Among them, 7 were missense mutations and 6 were silent Polymorphism, of the seven missense mutations, five were first reported internationally (reported at the 5th China-Japan Diabetes Conference and the 16th International Diabetes Federation conference). CONCLUSIONS: Insulin receptor gene mutations cause insulin resistance.