瓣膜疾病患者和先心病患者心肌线粒体DNA缺失的初步观察

Primary investigation on the deletions of myocardial mitochondrion DNA in patients with valvular heart disease and congenital heart disease

目的 初步观察心脏瓣膜疾病与先心病患者心肌线粒体DNA缺失及其意义。方法 随机选择心脏瓣膜病患者 1 7例和 1 4例先心病患者术中取心肌 ,提取线粒体DNA ,应用PCR测序技术检测心肌线粒体DNA序列并分析其突变情况。结果 1 7例心肌瓣膜置换术患者中 ,总核苷酸碱基变异或丢失为 70个 ,人均变异率为 4 .1 1 76个 ,碱基平均变异率为 1 .1 372 % ;1 4例先心病患者中 ,核苷酸碱基总变异为 6 3个 ,人均变异率为 4 .5个 ,碱基平均变异率为 1 .31 1 8% ;瓣膜置换术组C T变异率为5 1 .39% ,T C变异率为 33.33% ,先心病组C T变异率为 4 6 .0 3% ,T C变异率为 34.92 %。

Objective To investigate primarily the deletions of myocardial mitochondrion DNA in patients with valvular heart disease and congenital heart disease and its implication.Methods 17 cases of valvular heart disease and 14 cases of congenital heart disease were randomly selected, the myocardial samples were obtained during operation and mitochondrion DNA was extracted,the mutation of mitochondrion DNA was assayed by PCR sequencing technique.Results Total deletion of mitochondrion DNA was 70 bases,and the average mutation rate was 4.1176 bases and the average mutation of base was 1.1372 per cent in 17 cases of valvular heart disease;Total deletion of mitochondrion DNA was 63 bases,and the average mutation rate was 4.5 bases and the average mutation of base was 1.3118 per cent in 14 cases of congenital heart disease;The rate of C T mutation was 51.39 per cent and the rate of T C mutation was 33.33 per cent in 17 cases of valvular heart disease, the rate of C T mutation was 46.03 per cent and the rate of T C mutation was 34.92 per cent in 14 cases of congenital heart disease.Conclusion The deletion and mutation of mitochondrion DNA might occur in patients with valvular heart disease and congenital heart disease at certain degree.