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目的 探讨线粒体tRNAleu(UUR) 基因突变糖尿病 (MDM)在沈阳地区汉族人中的检出率及其临床表现。方法 应用聚合酶链反应 /ApaⅠ酶解法检测 10 0例母亲患有糖尿病 (DM)的 2型DM患者的tRNAleu(UUR) 基因。结果 10 0例患者中 3例有此基因突变 ;结合家系调查除认识了本病一般临床表现外 ,尚发现几种少见表现类型 :孪生儿MDM、未被证实为母系遗传的MDM及尚未发病的MDM致病基因携带者。结论 本病在有DM家族史、尤其母亲患有DM的 2型DM患者中的检出率为 3% ;孪生儿MDM更体现了本病呈母系遗传的特点 ,另有一例未被证实为母系遗传的MDM ,需对其进一步研究
Objective To investigate the detection rate and clinical manifestation of mitochondrial tRNAleu (UUR) gene mutation diabetes mellitus (MDM) in Shenyang Han nationality. Methods The tRNAleu (UUR) gene in 100 type 2 diabetic patients with DM was detected by polymerase chain reaction / Apa Ⅰ digestion. Results In 10 cases, 3 cases had this gene mutation. In addition to recognizing the general clinical manifestations of the disease, family history of the disease revealed several rare manifestations: twin MDM, maternally inherited MDM and non-onset MDM MDM gene carrier. Conclusion The prevalence of this disease is 3% in type 2 DM patients with DM family history, especially in mothers with DM. Twins MDM shows the characteristics of this disease as maternally inherited. Another case has not been confirmed as maternal Genetic MDM, need to be further studied