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http://dx.doi.org/10.5012/jkcs.2007.51.6.543

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

Nam, Youn-Hyoung (Deparment of Chemistry, School of Advanced Science and Basic Science Research Institute, Dankook University)
Park, Dae-Yong (Deparment of Chemistry, School of Advanced Science and Basic Science Research Institute, Dankook University)
Park, Sang-Bum (Deparment of Chemistry, School of Advanced Science and Basic Science Research Institute, Dankook University)
An, Young-Chang (Deparment of Chemistry, School of Advanced Science and Basic Science Research Institute, Dankook University)
Lee, Sang-Hyun (Deparment of Chemistry, School of Advanced Science and Basic Science Research Institute, Dankook University)
Cho, Min-Ho (Deparment of Chemistry, School of Advanced Science and Basic Science Research Institute, Dankook University)
Park, Su-Min (Deparment of Chemistry, School of Advanced Science and Basic Science Research Institute, Dankook University)
Jang, Won-Cheoul (Deparment of Chemistry, School of Advanced Science and Basic Science Research Institute, Dankook University)
Publication Information
Journal of the Korean Chemical Society / v.51, no.6, 2007 , pp. 543-548 More about this Journal
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.
Keywords
MODY; GCK; HNF-1${\alpha}$; DHPLC;
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  • Reference
1 Kim, K. A. Diabetologia 2003, 46, 721   DOI
2 Boutin, P.; Vasseur F. Diabetologia 2001, 44, 775   DOI
3 Preuhova, S. Diabetologia 2003, 46, 291   DOI
4 Pigullo, S. Parkinsonism & Related Disorders 2004, 10, 357   DOI   ScienceOn
5 Frayling, T. M. et al. Diabetes 1997, 46, 720   DOI   ScienceOn
6 Velho, G.; Froguel, P. Eur. J. Endocrinol. 1998, 138, 233   DOI
7 Bell, G. I. et al. Proc. Natl. Acad. Sci. U. S. A. 1991, 88, 1484   DOI   ScienceOn
8 Yamagata, K. et al. Nature 1996, 384, 458   DOI   ScienceOn
9 Froguel, P. et al. Nature 1992, 356, 162   DOI   ScienceOn
10 Froguel, P. et al. New Engl. J. Med. 1993, 328, 697   DOI   ScienceOn
11 Owen, K.; Hattersley, A. T. Best Practice & Research Clinical Endocrinology and Metabolism 2001, 15, 39
12 Ikema, T. Diabetologia 2001, 45, 1713   DOI
13 Velho, G. et al. Diabetologia 1997, 40, 217   DOI
14 Vaxillaire, M. et al. Hum. Mol. Genet. 1997, 6, 583   DOI   ScienceOn
15 Leahy, J. L. Archives of Medical Research 2005, 36, 197   DOI   ScienceOn
16 Mitchell, S. M. S.; Frayling, T. M. Molecular Genetics and Metabolism 2002, 77, 35   DOI   ScienceOn
17 Froguel, P.; Velho, G. TEM. 1990, 10, 4
18 Vaxillaire, M. et al. Nat. Genet. 1995, 9, 418   DOI   ScienceOn
19 Yamagata, K. et al. Nature 1996, 384, 455   DOI   ScienceOn
20 Stoffers, D. A.; Zinkin, N. T.; Stanojevic, V.; Clarke, W. L.; Habener, J. F. Nat. Genet. 1997, 15, 106   DOI   ScienceOn
21 Stoffers, D. A.; Ferrer, J.; Clarke, W. L.; Habener, J. F. Nat. Genet. 1997, 17, 138   DOI   ScienceOn
22 Horikawa, Y. et al. Nat. Genet. 1997, 17, 384   DOI   ScienceOn
23 Chre, J. C. et al. Diabetologia 1998, 41, 1017   DOI
24 Ledermann, H. M. Lancet 1995, 345, 648
25 Xiao W.; Oefner P. J. Human Mutation 2001, 17, 439   DOI   ScienceOn