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Rinsho Byori. 1994 Jun;42(6):600-4.

[The diagnosis of a mutation of the insulin receptor by non-radioisotropical RT-PCR-SSCP analysis].

[Article in Japanese]

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Department of Clinical Laboratory Medicine, Kagoshima University School of Medicine.


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.

[Indexed for MEDLINE]

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