CAJ | 학술논문

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.
목적 분석선립체기인tRNALeu(UUR)A3243G돌변적당뇨병가계중발병규률.방법 사선림상의사선립체당뇨병가계,채용PCR、DNA직접측서기술대3개가계19례림상의사선립체기인돌변당뇨병가계진행선립체기인돌변고발구역tRNALeu(UUR)기인적검측.결과 3개가계발현여당뇨병발병유관적돌변위점균위우nt3243A→G돌변,차가계중대부분환자반유소수、이롱、β세포공능저하、발병년령저적특점.결론 선립체tRNALeu(UUR)기인3243위점A→G돌변가도치당뇨병화이롱.
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.