|
KMID : 1059520070510060543
|
|
Journal of the Korean Chemical Society
2007 Volume.51 No. 6 p.543 ~ p.548
|
|
|
Analysis of the GCK and HNF-1α Gene Polymorphism in Korean Type 2 Diabetic Patients by PCR-DHPLC
|
|
Nam Youn-Hyoung
Park Dae-Yong
Park Sang-Bum
Ahn Young-Chang
Lee Sang-Hyun
Cho Min-Ho
Park Su-Min
Jang Won-Choeul
|
|
|
Abstract
|
|
|
|
Maturity-onset diabetes of the young (MODY) is a genetically heterogeneous subtype of Type 2 diabetes characterized (non-insulin-dependent) by early onset, usually before 25 years of age, autosomal dominant inheritance and a primary defect in insulin secretion. Mutations in the glucokinase (GCK) and hepatocyte nuclear factor (HNF)-1α genes are the major causes of monogenic forms of Type 2 diabetes mellitus. Therefore it is need to study relation with these polymorphisms by diverse analysis methods. The promotor and coding regions inclusive intron exon boundaries of the GCK, HNF-1α genes were examined by PCR-DHPLC (Polymerase Chain Reaction - Denaturing High Performance Liquid Chromatography) and direct sequencing. We extracted DNA from 11 patients and 20 normals. Then we 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.
|
|
|
KEYWORD
|
|
|
MODY, GCK, HNF-1α, DHPLC, MODY, GCK, HNF-1α, DHPLC
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|