Abstract
To investigate the clinical characteristics and the prevalence of mitochondrial gene A3243G mutation in diabetic pedigrees. Nineteen suspected mitochondrial DNA diabetic family members from three families were recruited. The gene fragment was amplified by PCR, and mutation was detected by direct sequencing. In three pedigrees, the three probands and their mothers were found carrying the most common nt3243A>G mutation. Most of diabetic patients in these families were deaf and diabetes was developed at early age, characterized by impaired beta cell function and low body mass index (BMI). The mitochondrial gene A3243G mutation may cause diabetes mellitus and deaf.
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