XÂY DỰNG QUY TRÌNH KỸ THUẬT XÁC ĐỊNH ĐỘT BIẾN GEN HNF1A VÀ GCK TRONG CHẨN ĐOÁN ĐÁI THÁO ĐƯỜNG DI TRUYỀN MODY

Abstract

Objectives: MODY (Maturity Onset Diabetes of the Young) is hereditary monogenic forms of diabetes with typical familial early onset hyperglycemia, usually before the age of 25. Mutations in HNFIA and GCK gene contributes up to 90% of fhe MODY cases. We conduct this study to set up a DNA Sequencing procedure to investigate the Mutation of HNF1A and GCK gene in MODY diagnosed patient. Methods: Primers for amplification of 70 exons and the exon-intron boundaries of HNF1A and GCK gene were designed. Genomic DNA was extracted from Peripheral blood sample of MODY patient. These DNA were respectively amplified and sequenced by Sanger fechnique. Results: The whole coding site and the exon-intron boundaries of HNF1A and GCK gene were successfully amplified. After sequencing, no Pathogenic mutation was found in these 2 genes.