糖尿病家系的线粒体基因tRNALeu(UUR)A3243G突变分析

目的 分析线粒体基因tRNALeu(UUR)A3243G突变的糖尿病家系中发病规律.方法 筛选临床疑似线粒体糖尿病家系,采用PCR、DNA直接测序技术对3个家系19例临床疑似线粒体基因突变糖尿病家系进行线粒体基因突变高发区域tRNALeu(UUR)基因的检测.结果 3个家系发现与糖尿病发病有关的突变位点均位于nt3243A→G突变,且家系中大部分患者伴有消瘦、耳聋、β细胞功能低下、发病年龄低的特点.结论 线粒体tRNALeu(UUR)基因3243位点A→G突变可导致糖尿病和耳聋.

Analysis of mitochondrial DNA gene tRNALeu(UUR) A3243G mutation in diabetic pedigrees WANG Cai-ling1,

Objective To investigate the clinical characteristics and the prevalence of mitochondrial gene A3243G mutation in diabetic pedigrees.MethodsNineteen suspected mitoehondrial DNA diabetic family members from three families were recruited.The gene fragment was amplified by PCR,and mutation was detected by direct sequencing.ResultsIn 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 βcell function and low body mass index(BMI).Conclusion The mitochondrial gene A3243G mutation may cause diabetes mellitus and deaf.