日本人インスリン非依存型糖尿病におけるKir6.2遺伝子変異の検索

概要

論文の詳細を見る
Insulin deficiency has been reported to be a major factor for the development of non-insulin dependent diabetes mellitus (NIDDM). Some genetic factors may contribute to insulin-deficiency in NIDDM. The ATP-sensitive K^+ channel plays a central role in insulin secretion from pancreatic β-cells. This channel consist of two subunits, sulfonylurea receptor 1 (SUR1) and an inwardly rectifying K^+ channel (Kir6.2). We screened 31 Japanese patients with NIDDM and 76 non-diabetic subjects for mutations in the Kir6.2 gene by polymerase chain reaction (PCR)/single strand conformational polymorphism (SSCP), and if necessary, we confirmed the sequence of the mutations by direct sequencing. We identified one silent mutation (A190A) and two missense mutations (E23K and I337V) in normal and diabetic individuals. The E23K and I337V variants were not linked in this study. Three variants (E23K, A190A and I337V) were found similar frequency in diabetic and normal subjects. XVe conclude that mutations in Kir6.2 gene are unlikely to be a major cause of NIDDM.
関西鍼灸大学の論文
1999-09-30