CHARACTERIZATION AND VARIATION OF A HUMAN INWARDLY-RECTIFYING K-CHANNEL GENE (KCNJ6) - A PUTATIVE ATP-SENSITIVE K-CHANNEL SUBUNIT

The ATP-sensitive K-channel plays a central role in insulin release from pancreatic beta-cells. We report here the cloning of the gene (KCNJ6) encoding a putative subunit of a human ATP-sensitive K-channel expressed in brain and beta-cells, and characterisation of its mon-intron structure, Screening of a somatic cell mapping panel and fluorescent in situ hybridization place the gene on chromosome 21 (21q22.1-22.2). Analysis of single-stranded conformational polymorphisms revealed the presence of two silent polymorphisms (Pro-149: CC ($) under bar G-CC ($) under bar A and Asp-328: GA ($) under bar C-GA ($) under bar T) with similar frequencies in normal and noninsulin-dependent diabetic patients.