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

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)169-176
Number of pages8
JournalDiabetes Research and Clinical Practice
Volume50
Issue number3
DOIs
Publication statusPublished - 2000 Jan 1

Fingerprint

Glucokinase
Kidney Transplantation
Diabetes Mellitus
Mutation
Single-Stranded Conformational Polymorphism
Exons
Single-Stranded DNA
Introns
Genes
Nucleotides
Polymerase Chain Reaction
DNA Sequence Analysis
Proline
Codon
Leucine
Allografts

All Science Journal Classification (ASJC) codes

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

Cite this

Nam, Jae Hyun ; Lee, Hyun Chul ; Kim, Youn Hee ; Cha, Bong Su ; Song, Young Duk ; Lim, Sung Kil ; Kim, Kyung Rae ; Huh, Kap Bum. / Identification of glucokinase mutation in subjects with post-renal transplantation diabetes mellitus. In: Diabetes Research and Clinical Practice. 2000 ; Vol. 50, No. 3. pp. 169-176.
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abstract = "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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Identification of glucokinase mutation in subjects with post-renal transplantation diabetes mellitus. / Nam, Jae Hyun; Lee, Hyun Chul; Kim, Youn Hee; Cha, Bong Su; Song, Young Duk; Lim, Sung Kil; Kim, Kyung Rae; Huh, Kap Bum.

In: Diabetes Research and Clinical Practice, Vol. 50, No. 3, 01.01.2000, p. 169-176.

Research output: Contribution to journalArticle

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AU - Huh, Kap Bum

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