[Identification of a novel glucokinase-E339K mutation in a Chinese maturity onset diabetes of the young 2 pedigree]

Zhonghua Nei Ke Za Zhi. 2009 Sep;48(9):720-3.
[Article in Chinese]

Abstract

Objective: To identify the related gene for a typical maturity onset diabetes of the young 2 (MODY2) pedigree.

Methods: The genomic DNA of all the members of the pedigree was extracted and then PCR amplification on 5', 3' untranslated region and exon 1 - 10 of glucokinase (GCK) gene was carried out. Sequencing in both directions was performed to identify mutation on GCK gene.

Results: A novel GCK-E339K mutation which was cosegregated with diabetes/impaired glucose tolerance was identified.

Conclusion: The novel GCK-E339K mutation might be linked to this MODY2 pedigree.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asian People / genetics
  • Blood Glucose
  • Diabetes Mellitus, Type 2 / genetics*
  • Exons
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Glucokinase / genetics*
  • Humans
  • Mutation*
  • Pedigree

Substances

  • Blood Glucose
  • Glucokinase