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目的探讨胰岛素受体基因缺陷在胰岛素抵抗产生中的作用。方法运用聚合酶链反应单链构型多态性技术，对９例黑棘皮病先证者及其一级亲属２３人进行了胰岛素受体基因的第２０外显子的检测。结果发现３个点突变：Ｍｅｔ１１５３→ＩＬｅ、Ｇｌｙ１１５９→ｓｔｏｐ、Ｇｌｙ１１８５→Ａｒｇ，其中后２个点突变为国际首次报道。结论上述基因突变可能是造成胰岛素抵抗的原因之一。
Objective To investigate the role of insulin receptor deficiency in insulin resistance. Methods The exon 20 of insulin receptor gene was detected in 9 cases of acanthosis nigricans and its first relatives by polymerase chain reaction single strand conformation polymorphism. Three point mutations were found: Met1153 → ILe, Gly1159 → stop, Gly1185 → Arg, of which the last two mutations were the first reported in the world. Conclusion The above mutations may be one of the causes of insulin resistance.