title: [The diagnosis of a mutation of the insulin receptor by non-radioisotropical RT-PCR-SSCP analysis].
abstract: 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.
authors.affiliation: Department of Clinical Laboratory Medicine, Kagoshima University School of Medicine.
authors.forename: T
authors.initials: T
authors.lastname: Furuzono
authors.forename: T
authors.initials: T
authors.lastname: Nakajima
authors.forename: I
authors.initials: I
authors.lastname: Kitajima
authors.forename: M
authors.initials: M
authors.lastname: Akashi
authors.forename: T
authors.initials: T
authors.lastname: Kamada
authors.forename: S
authors.initials: S
authors.lastname: Setoyama
authors.forename: I
authors.initials: I
authors.lastname: Maruyama
mesh_terms: D000328:Adult; D001483:Base Sequence; D003920:Diabetes Mellitus / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011972:Receptor, Insulin / Q000235:genetics*
chemical_list: D011972:Receptor, Insulin