糖尿病家系的线粒体基因tRNA^Leu（UUR）A3243G突变分析  

Analysis of mitochondrial DNA gene tRNA^Leu（UUR）A3243G mutation in diabetic pedigrees

作　　者：王彩玲[1] 李方[2] 侯钦芝[2] 李海珍 张钰[4] 宁光[4] 

机构地区：[1]山东省千佛山医院内分泌科,250014 [2]泰山医学院老年医学科 [3]东营市区人民医院内科 [4]上海瑞金医院内分泌科

出　　处：《中华医学遗传学杂志》2009年第1期74-77,共4页Chinese Journal of Medical Genetics

摘　　要：目的分析线粒体基因tRNA^Leu（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tRNA^Leu（UUR）A3243G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、G细胞功能低下、发病年龄低的特点。结论线粒体tRNA^Leu（UUR）A3243G基因3243位点A→G突变可导致糖尿病和耳聋。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 fatuities were deaf and diabetes was developed at early age, characterized by impaired β cell function and low body mass index （BMI）. Conclusion The mitochondrial gene A3243G mutation may cause diabetes mellitus and deaf.

关 键 词：线粒体基因 糖尿病 tRNA^Leu(UUR)A3243G 基因 基因突变 耳聋 

分 类 号：R686[医药卫生—骨科学]