Analysis of the GCK and HNF-1 Gene Polymorphism in Korean Type 2 Diabetic Patients by PCR-DHPLC

Journal of the Korean Chemical Society

Youn-Hyoung Nam¹  Dae-Yong Park¹  Sang-Hyun Lee¹  Young-Chang An¹  Sang-Bum Park¹  Min-Ho Cho¹  Su-Min Park¹  Won-Cheoul Jang¹ 

关键词: MODY;    GCK;    HNF-1¥á;    DHPLC;   

DOI  :  

学科分类：化学（综合）

来源: Korean Chemical Society

【 摘 要 】

Maturity-onset diabetes of the young (MODY) is a genetically heterogeneous subtype of Type 2 diabetescharacterized (non-insulin-dependent) by early onset, usually before 25 years of age, autosomal dominant inheritanceand a primary defect in insulin secretion. Mutations in the glucokinase (GCK) and hepatocyte nuclear factor(HNF)-1¥á genes are the major causes of monogenic forms of Type 2 diabetes mellitus. Therefore it is need to study relationwith these polymorphisms by diverse analysis methods. The promotor and coding regions inclusive intron exonboundaries of the GCK, HNF-1¥á genes were examined by PCR-DHPLC (Polymerase Chain Reaction - Denaturing HighPerformance Liquid Chromatography) and direct sequencing. We extracted DNA from 11 patients and 20 normals. Thenwe confirmed a single-nucleotide polymorphism using PCR-DHPLC. As results, we identified one mutation (R135G)in GCK gene and two mutations (I27L, S487N) in HNF-1a and at the same time detected mutation in intron 8.

【 授权许可】

Unknown