임신성 당뇨병 환자에서 글루코키나제 유전자의 췌도 B 세포 특이 프로모터 -30bp 부위의 변화

• Published in: The Korean journal of medicine Vol. 57; no. 5; pp. 916 - 924
• Main Authors: 김진우, Jin Woo Kim, 양인명, In Myung Yang, 김성운, Sung Woon Kim, 김영설, Young Seol Kim, 최영길, Young Kil Choi, 우정택, Jung Taek Woo, 김세윤, Se Yoon Kim, 오승준, Seung Joon Oh, 팽정령, Jeon Ryung Paeng, 장학철, Hak Chul Chang
• Format: Journal Article
• Language: Korean
• Published: 대한내과학회 01.11.1999
• ISSN: 1738-9364

Glucokinase is expressed only in both liver and pancreatic beta cells and has a key role in the regulation of glucose metabolism in these tissues. A number of gene defects associated with glucokinase gene and the cause of non-insulin-dependent diabetes mellitus are known, and the defects along the -30bp promoter site in particular are thought to be related to diabetes and glucose intolerance. To research on gene study related to diabetes, we looked into the relationship between the variation at -30bp of pancreatic beta cell specific glucokinase gene promoter and gestational diabetes mellitus(GDM) in Korea. Methods : Forty patients with GDM and 62 normal controls were studied. Genomic DNA was extracted from peripheral leukocyte of patients with GDM and normal controls. The nucleotide variation at -30 bp of pancreatic beta cell specific glucokinase gene promoter was analyzed by PCR-SSCP methods. The sequences of amplified DNA were confirmed with direct sequencing method. The clinical features and the response of insulin secretion to oral glucose were analyzed between patients with GDM according to genotypes. Results: Allelic frequency of position -30 bp of pancreatic beta cell specific glucokinase gene promoter did not differ between patients with GDM and normal subjects. However the frequency of G/A and A/A genotypes seemed to show a higher tendency in patients with GDM compare to the normal subjects. Clinical features, insulin response to oral glucose did not differ according to the type of variation at -30bp of pancreatic beta cell specific glucokinase gene promoter. Conclusion : These data suggested that the variation at -30 bp of pancreatic beta cell specific glucokinase gene promoter in patients with GDM are unlikely to be one of the possibilities of the genetic factors in the development of GDM. Therefore more sophisticated studies will be needed to elucidate the role of variation at -30bp of pancreatic beta cell specific glucokinase gene promoter in the insulin secretion to oral glucose. (Korean. J. Med 57:916-924, 1999)