Furuzono T, Nakajima T, Kitajima I, Akashi M, Kamada T, Setoyama S, Maruyama I
Department of Clinical Laboratory Medicine, Kagoshima University School of Medicine.
Rinsho Byori. 1994 Jun;42(6):600-4.
We evaluated a 24 years old diabetes woman with type A insulin resistant (patient "Yakushima") who had some typical symptoms as acanthosis nigricans, hirsutism and virilization. Insulin binding to the patient's erythrocytes was significantly decreased to about 30% of the normal control. In order to determine the mutation of the insulin receptor, we used for reverse transcript-polymerase chain reaction-single strand conformation polymorphism (RT-PCR-SSCP) analysis without using radiolabeled materials. We also analysed the nucleotide sequence with non-isotropical probe. Our results suggested that the mutation was heterozygous, and the patient had a new missense mutation substituted Asn461 for Thr461 in the alpha-subunit.
我们评估了一名24岁的A型胰岛素抵抗糖尿病女性患者（“屋久岛”患者），她有一些典型症状，如黑棘皮症、多毛症和男性化。胰岛素与该患者红细胞的结合显著降低至正常对照的约30%。为了确定胰岛素受体的突变，我们使用逆转录-聚合酶链反应-单链构象多态性（RT-PCR-SSCP）分析，且未使用放射性标记材料。我们还使用非同位素探针分析了核苷酸序列。我们的结果表明该突变是杂合的，并且该患者在α亚基中有一个新的错义突变，即第461位的苏氨酸被天冬酰胺取代。
