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The ATP-sensitive K channel (K-ATP channel) in pancreatic beta cells is believed to play a crucial role in glucose-stimulated insulin release. We investigated whether defects in the recently cloned gene for a putative subunit of this channel (KATP-2) could be a cause of diabetes in Japanese patients. The coding region of this beta-cell type channel gene was investigated in 192 diabetics with a family history of the disorder by single-stranded conformational polymorphism (SSCP) analysis. Two silent polymorphisms were found and confirmed by sequencing, but no missense or nonsense mutations were detected. The allele frequency of the polymorphisms was compared with 96 control subjects without a family history of the disease, and no clear difference was found. These results indicate that genetic defects of the KATP-2 channel may not be a major cause of diabetes in Japan.

Original publication

DOI

10.1006/bbrc.1995.1915

Type

Journal article

Journal

Biochem Biophys Res Commun

Publication Date

26/06/1995

Volume

211

Pages

1036 - 1040

Keywords

Adult, Asian Continental Ancestry Group, Base Sequence, DNA Primers, Diabetes Mellitus, Type 2, Humans, Islets of Langerhans, Japan, Molecular Sequence Data, Mutation, Polymerase Chain Reaction, Potassium Channels