日本人インスリン非依存型糖尿病におけるスルフォニル尿素受容体遺伝子変異の検索

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. Recently, a polymorphism of the sulfonylurea receotor (SUR) gene, espesially nucleotide binding fold (NBF)-1, has been demonstrated to be associated with NIDDM in Caucasian. The aim of the present study was to investigate to clarify the mechanism of NIDDM in Japanese from the polymorphism at Exon 16 and 18 of the SUR gene and the mutation of NBF. The methods used here were polymerase chain reaction (PCR)/ single strand conformation polymorphism (SSCP) for mutation screening, and restriction fragment length polymorphism (RFLP) for typing. Although mutation from t to c at Exon 16 of SUR gene was found, there was no differrence of frequency between NIDDM group and healthy group. In one case of NIDDM group, mutation at Exon 33 was found to be missense, which has been reported in Caucasian. It indicates that onset of NIDDM may not be related to the mutation at NBF region of SUR gene, but the mutation of the other exons of SUR gene may be a contributor to the inherited basis of NIDDM in Japanese.
関西鍼灸大学の論文
1998-06-30