Frechtel Gustavo Daniel, López Ariel Pablo, Rodríguez Martín, Cerrone Gloria Edith, Targovnik Héctor Manuel
Laboratory of Molecular Biology, Department of Genetic and Molecular Biology, School of Pharmacy and Biochemistry, University of Buenos Aires, Buenos Aires, Argentina.
Mol Diagn. 2003;7(2):129-31. doi: 10.1007/BF03260029.
Maturity onset diabetes of the young (MODY) is caused by mutations in at least six different genes, including the glucokinase gene (MODY 2) and genes encoding the tissue-specific transcription factors (MODY 1 and MODY 3-6). To determine the presence of mutations in MODY 2 in four members of a family who have the clinical characteristics of MODY, we performed polymerase chain reaction and single strand conformation polymorphism screening, followed by DNA sequencing. We found a novel mutation which consisted of the deletion of a cytosine in the position 2 of the exon 5 codon 168. This mutation produced a frame shift which determines a stop codon at position 203 in exon 6. The identification of a mutation in glucokinase gene and transcription factor genes in patients with early-onset diabetes confirms the diagnosis of MODY and has important implications for clinical management.
青年发病的成年型糖尿病（MODY）由至少六种不同基因的突变引起，包括葡萄糖激酶基因（MODY 2）和编码组织特异性转录因子的基因（MODY 1以及MODY 3 - 6）。为了确定一个具有MODY临床特征的家族中四名成员是否存在MODY 2突变，我们进行了聚合酶链反应和单链构象多态性筛查，随后进行DNA测序。我们发现了一种新的突变，该突变由外显子5密码子168第2位的胞嘧啶缺失组成。这种突变导致了移码，从而在外显子6的第203位确定了一个终止密码子。在早发糖尿病患者中鉴定出葡萄糖激酶基因和转录因子基因的突变，证实了MODY的诊断，并对临床管理具有重要意义。
