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.
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