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Molecular scanning of the insulin receptor substrate-1 (IRS-1) gene in Japanese patients with NIDDM: identification of five novel polymorphisms by S. Ura; E. Araki; H. Kishikawa; T. Shirotani; M. Todaka; S. Isami; S. Shimoda; R. Yoshimura; K. Matsuda; S. Motoyoshi; N. Miyamura; C. R. Kahn; M. Shichiri is a Medicine article available to read on EtoBox.

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Since the insulin receptor substrate-1 (IRS-1) is the major substrate of the insulin receptor tyrosine kinase and has been shown to activate phosphatidylinositol (PI) 3-kinase and promote GLUT4 translocation, the IRS-1 gene is a potential candidate for development of non-insulin-dependent diabetes mellitus (NIDDM). In this study, we have identified IRS-1 gene polymorphisms, evaluated their frequencies in Japanese subjects, and analysed the contribution of these polymorphisms to the development of NIDDM. The entire coding region of the IRS-1 gene of 94 subjects (47 NIDDM and 47 control subjects) was screened by polymerase chain reaction-single stranded conformation polymorphism (PCR-SSCP) analysis. Seven SSCP polymorphisms were identified. These corresponded to two previously identified polymorphisms [Gly97~Arg (GGG~AGG) and Ala 8~ (GCA~GCG)] as well as five novel polymorphisms [Pro19~ (CCC---~CGC), Met2~ (ATG~ACG), SerS~ (TCT~TTT), Leu 142 (CTT~CTC), and Gly 625 (GGC~GGT)]. Although the prevalence of each of these polymorphisms was not statistically different between NIDDM and control subjects, the prevalence of the four IRS-I polymorphisms with an amino acid substitution together

Who reads Molecular scanning of the insulin receptor substrate-1 (IRS-1) gene in Japanese patients with NIDDM: identification of five novel polymorphisms?

Author

S. Ura; E. Araki; H. Kishikawa; T. Shirotani; M. Todaka; S. Isami; S. Shimoda; R. Yoshimura; K. Matsuda; S. Motoyoshi; N. Miyamura; C. R. Kahn; M. Shichiri

Publisher

Springer; Springer-Verlag; Springer Verlag; Springer Science and Business Media LLC (ISSN 0012-186X)

Published

1996

Language

EN

Field

Medicine (Health Sciences)