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Identification of glucokinase mutation in subjects with post-renal transplantation diabetes mellitus

 Jae-Hyun Nam  ;  Hyun-Chul Lee  ;  Youn-Hee Kim  ;  Bong-Su Cha  ;  Young-Duk Song  ;  Sung-Kil Lim  ;  Kyung-Rae Kim  ;  Kap-Bum Huh 
 Diabetes Research and Clinical Practice, Vol.50(3) : 169-176, 2000 
Journal Title
 Diabetes Research and Clinical Practice 
Issue Date
Adult ; DNA Primers ; Diabetes Mellitus/etiology* ; Diabetes Mellitus/genetics* ; Exons ; Female ; Genetic Variation ; Glucokinase/genetics* ; Humans ; Introns ; Kidney Transplantation* ; Male ; Middle Aged ; Mutation* ; Pedigree ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational* ; Postoperative Complications* ; Reference Values ; Transplantation, Homologous
Post-renal transplantation diabetes mellitus ; Glucokinase ; Mutations
Mutations in the glucokinase (GCK) gene are considered to be 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 post-renal transplantation diabetes mellitus (PTDM). Identification of the GCK mutation was attempted in 58 selected renal allograft recipients with PTDM and 45 normal controls. The exons in the GCK gene were examined using polymerase chain reaction (PCR), followed by an analysis of single-stranded DNA conformational polymorphism (SSCP). The abnormal bands were then confirmed by DNA sequencing analysis. The family members of the patients affected with GCK mutation were also examined. Two of the 58 PTDM patients (3. 4%) were found to have GCK mutations. One had the mutation on exon 5 and the other on intron 7. One control subject had the mutation on intron 9. The mutation on exon 5 was identified as a substitution of CCT (proline) for CTT (leucine) at codon 164, which has never been reported before. The family members of the PTDM patient with a mutation on exon 5 were analyzed by PCR, followed by SSCP, and two of them had the same mutation. The abnormal band seen on SSCP analysis of exon 7 was identified as the C-->T substitution at the 39th nucleotide in intron 7. Two of the family members also displayed the same bands on the SSCP. One of the 45 normal controls had a known polymorphism located at the 8th nucleotide in intron 9. We found a GCK mutation on the exon in subjects with PTDM and we speculate that this mutation may be one of the possible contributing factors of PTDM, although variations of the GCK gene are not common causes 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)
Cha, Bong Soo(차봉수) ORCID logo https://orcid.org/0000-0003-0542-2854
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