线粒体基因异常糖尿病临床预报的探讨

目的　拟建立基因序列检测的糖尿病 (DM )临床预报方法。方法　对 10 4例糖尿病患者和 5 0例正常无DM家族史对照者 ,用聚合酶链反应扩增 3 161～ 3 610基因片段直接测序。结果　 10 4例DM患者有 2 .88%同时出现mtDNA3 497C→T、3 5 71C→T点突变 ,和 3 2 90T→C点突变 ;1.92 %出现 3 42 1G→A基因突变。DM组与正常对照组比较有显著性差异 (P <0 .0 1)。结论　 3 497C→T、3 5 71C→T位点同时突变 ,或同时合并其他基因突变 ;3 3 16G→A位点突变合并 3 2 90T→C或其他错义基因突变时与DM有关。

Discuss on Clinical Prediction of Diabetes Mellitus by Mitochondrial Gene Abnormality

Objective To develop an clinical assay to predict diabetes mellitus(DM) by mitochondrial DNA(mtDNA) sequence analysis.Method The mutation rate of mtDNA fragments 3161～3610 in 104 patients with DM and 50 normal controls was studid by PCR and sequencing.Results 2.88% of 104 patients with DM had mtDNA 3497 C→T,3571 C→T and 3290 T→C point mutation simultaneously,and 1.92% of them had 3421 G→A point mutation.There were significant differences between DM patients and normal controls(P<0.01).Conclusions DM was relevant to 3497 C→T mutation comined with 3571 C→T mutation or other site mutation as well as 3316 G→A mutation combined with 3290 T→C or other missense mutation in mtDNA.