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한국인 인슐린 비의존형 당뇨병 및 이차성 당뇨병 환자에서 글루코키나제 유전자 변이

Other Titles
 Glucokinase gene mutation in non - insulin - dependent diabetes mellitus ( NIDDM ) , and secondary diabetes in Koreans 
 남재현  ;  이현철  ;  김연의  ;  권석호  ;  윤용석  ;  박석원  ;  원영준  ;  차봉수  ;  송영득  ;  이은직  ;  임승길  ;  김경래  ;  허갑범 
 Korean Journal of Medicine (대한내과학회지), Vol.54(6) : 755-764, 1998 
Journal Title
 Korean Journal of Medicine (대한내과학회지) 
Issue Date
Objectives: Mutations in the glucokinase (GCK) gene are considered a possible cause of maturity-onset diabetes of the young. The purpose of this study was to evaluate the contribution of this gene to the development of non insulin dependent diabetes mellitus (NIDDM), gestational diabetes mellitus (GDM) and post-renal transplantation diabetes mellitus (PTDM). Method: Identification of GCK mutation was attempted on 39 NIDDM patients, 2 GDM patients and 58 selected renal allograft recipients with PTDM and 45 normal controls. The exons in the GCK gene were examined by polymerase chain reaction (PCR), followed by analysis of single-stranded DNA conformational polymorphism (SSCP). The abnormal bands were also confirmed by DNA sequencing analysis. The exons of affected family members were also investigated for mutations of the GCK gene. Results: Two of the 58 PTDM patients (3.4%) were found to have CKK mutations. One had the mutation on exon 5 and the other on intron 7. One control subject had the mutation on intmn 9. The mutation of exon 5 was identified as a substitution of CCT (proline) for CTT (leucine) at codon 164, which has not ever reported before. The family members of the PFDM patient with mutation of exon 5 were analyzed by PCR followed by SSCP, and two of them revealed the same mutation. The abnormal band on the SSCP analysis of exon 7 was identified as the insertion of base C/T at the 39th nucleotide in intron 7. Two family members of this patients also had same band on SSCP. The one mutation of 45 normal controls was CT located at the 8th nucleotide in intron 9, which was a common polymorphism. Conclusion: We found GCK mutations in subjects with PTDM and we speculate that these mutations may be one of the contributing cause of PTDM.
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1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
Lee, Hyun Chul(이현철)
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