多伴有神经性耳聋的中国人线粒体基因突变 糖尿病特点分析

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Objective To detect mitochondrial gene 3243 A to 1507 Chinese and analyze their clinical characteristics.Methods Classical PCR- RFLP was used to detect the mutation and statistical analysis was performed on the data after stratification in accordance with presence or absence of diabetes.Results (1)In this study,prevalence of mitochondrial gene 3243 A to G mutation was 1.16~ 1.20% .(2)Compared with MDM(mitochondrial diabetes),M- NGT(normal glucose to lerance with mutation)showed no significant difference in body fat parameters,blood lipid and C- peptide except for early onset and hearing loss(P=0.0028).(3)Compared with type 2 DM,MDM presented characteristics of early onset,weight loss,hearing loss,islet cell function decrease and maternal hereditary.Conclusion Follow- up should be given to the carrying the mitochondrial gene 3243 A to G mutation but presenting generally normal clinical manifestation in order to give the patient in- time diagnosis and treatment.
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