Analysis of mitochondrial DNA gene tRNALeu(UUR) A3243G mutation in diabetic pedigrees / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the clinical characteristics and the prevalence of mitochondrial gene A3243G mutation in diabetic pedigrees.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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).</p><p><b>CONCLUSION</b>The mitochondrial gene A3243G mutation may cause diabetes mellitus and deaf.</p>