A Novel Mutation in Exon 5 of the Glucokinase Gene in an Argentinian Family with Maturity Onset Diabetes of the Young
作者:
Gustavo Daniel Frechtel,
Ariel Pablo López,
Martín Rodríguez,
Gloria Edith Cerrone,
Héctor Manuel Targovnik,
期刊:
Molecular Diagnosis
(ADIS Available online 2003)
卷期:
Volume 7,
issue 2
页码: 129-131
ISSN:1084-8592
年代: 2003
出版商: ADIS
关键词: Genetic polymorphism;Diabetes mellitus
数据来源: ADIS
摘要:
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.
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