摘要
为了探讨神经肌肉性疾病的发病与线粒体ＤＮＡ突变的关系，采用ＰＣＲ技术检测了２０例患有不同神经肌肉性疾病儿童的外周血和骨骼肌细胞中的线粒体ＤＮＡ（ｍｔＤＮＡ），发现其中６例患儿有ｍｔＤＮＡ缺失，其中１例至少有２９６８ｂｐ片段的缺失，另５例至少有２０００ｂｐ片段的缺失，此缺失区位于线粒体呼吸链复合物１、４、５、编码区，表明该突变对神经肌肉性疾病的发生有一定作用。
To understand the relation to mechanism of neuromuscular disease and mtDNA mutation, using PCR technique, we investigated blood and/or skeletal muscle of 20 patients with neuromuscular diseases. A deletion in the length of 2 000～2 968 bp was found in blood mitochondrial DNA of 6 patients with neuromuscular disease. The deletion region partially lies in the coding region of resoiratony chain complex 1, 4, 5 It is suggested that this mutation is related with neuromuscular diseases.
出处
《遗传》
CAS
CSCD
北大核心
1998年第2期13-15,共3页
Hereditas（Beijing)
