Li Y Y, Xu J, Zhang J N
Institute of Cardiology, First Affilated Hospital Nanjing Medical College.
Zhonghua Yi Xue Za Zhi. 1994 Jun;74(6):345-8, 350.
Amplification of one of the frequently deleted regions of myocardial and lymphocytic mitochondrial DNA (mt DNA) from patients with dilated cardiomyopathy (DCM), acute myocardial infarction (AMI) and normal controls was carried out with polymerase chain reaction (PCR). The results showed that multiple deletions exist in mtDNA of both patients and normal controls. 7.8 kb deletion was detected in myocardial mtDNA of 2 patients with AMI and 10 patients with DCM; 7.47, 8.10, 8.32 and 8.48kb deletions were found in lymphocytic mtDNA of 3 patients with AMI and 25 patients with DCM as well as 14 normal controls. The incidence and abundance of the 7.47kb mtDNA deletion increased with age of all the subjects studied. Quantitative analysis showed that mutated mtDNA accumulated up to 10% of total mtDNA-only in some older patients. Single strand conformational polymorphism analysis of the amplified 8,530-9,333 fragment allowed us to find a point mutation in a patient with DCM. Clinical significance of the mutations in mtDNA was discussed.
运用聚合酶链反应（PCR）对扩张型心肌病（DCM）患者、急性心肌梗死（AMI）患者以及正常对照者心肌和淋巴细胞线粒体DNA（mtDNA）中常见的一个缺失区域进行扩增。结果显示，患者和正常对照者的mtDNA均存在多个缺失。在2例AMI患者和10例DCM患者的心肌mtDNA中检测到7.8 kb缺失；在3例AMI患者、25例DCM患者以及14例正常对照者的淋巴细胞mtDNA中发现了7.47、8.10、8.32和8.48 kb缺失。在所研究的所有受试者中，7.47 kb mtDNA缺失的发生率和丰度随年龄增加。定量分析表明，仅在一些老年患者中，突变的mtDNA累积至占总mtDNA的10%。对扩增的8530 - 9333片段进行单链构象多态性分析，使我们在1例DCM患者中发现了一个点突变。文中讨论了mtDNA突变的临床意义。
