摘要
目的 研究扩张型心肌病(DCM)患儿线粒体DNA（mtDNA）点突变情况。方法 检测了15例DCM、13例急性心肌炎（病程＜3个月）和10例正常儿外周血淋巴细胞mtDNA点突变。mtDNA点突变采用聚合酶链反应 (PCR) 和异源双链分析。结果 15例DCM中6例（40 %）存在3108～3717位保守区的mtDNA点突变，显著高于正常儿（P＜0.05）。其中有家族史的1例DCM患儿及其母亲均检出点突变，表现为母系遗传。13例急性心肌炎患儿检出1例存在mtDNA点突变，正常儿未发现点突变。结论 mtDNA点突变与部分DCM的发病有关。
Objective To study mitochondrial DNA (mtDNA) poin t mutation in children with dilated cardiomyopathy (DCM).Methods 15 sick children with DCM, 13 cases with acute myocarditis (sick for l ess than 3 months) and 10 healthy children were investigated and mtDNA point mutation w as detected by PCR and heteroduplex analysis. Results Mitochondrial DNA point mutation in the conservative area of 3108～3717 position was detected in 6 out of 15 cases(40 %) with DCM from blood samples, which was significantly higher than that in controls (P＜0.05）. Point mutation was found in a boy with familial DCM, and so was his moth er,which indicated matrilinear inheritance. Mitochondrial DNA point mutation als o existed in 1 of 13 patients with acute myocarditis, but none in healthy children. Conclusion Mitochondrial DNA point mutation was associated partly with DCM.
出处
《实用儿科临床杂志》
CAS
CSCD
北大核心
2001年第1期1-2,共2页
Journal of Applied Clinical Pediatrics
