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  • Title: [Analysis of mitochondrial DNA gene tRNALeu(UUR) A3243G mutation in diabetic pedigrees].
    Author: Wang CL, Li F, Hou QZ, Li HZ, Zhang Y, Ning G.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Feb; 26(1):74-7. PubMed ID: 19199257.
    Abstract:
    OBJECTIVE: To investigate the clinical characteristics and the prevalence of mitochondrial gene A3243G mutation in diabetic pedigrees. METHODS: 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. RESULTS: 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). CONCLUSION: The mitochondrial gene A3243G mutation may cause diabetes mellitus and deaf.
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