Wang Cai-ling, Li Fang, Hou Qin-zhi, Li Hai-zhen, Zhang Yu, Ning Guang
Department of Endocrinology and Metabolism, Qianfoshan Hospital, Jinan, Shandong, 250014 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Feb;26(1):74-7. doi: 10.3760/cma.j.issn.1003-9406.2009.01.017.
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.
探讨糖尿病家系中线粒体基因A3243G突变的临床特征及发生率。
招募来自三个家系的19名疑似线粒体DNA糖尿病家族成员。采用聚合酶链反应（PCR）扩增基因片段，直接测序法检测突变。
在三个家系中，发现三名先证者及其母亲携带最常见的nt3243A>G突变。这些家族中的大多数糖尿病患者伴有耳聋，且糖尿病发病年龄较早，以β细胞功能受损和低体重指数（BMI）为特征。
线粒体基因A3243G突变可能导致糖尿病和耳聋。
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