Kawashima S, Ohta S, Kagawa Y, Yoshida M, Nishizawa M
Department of Neurology, Jichi Medical School, Tochigi, Japan.
Muscle Nerve. 1994 Jul;17(7):741-6. doi: 10.1002/mus.880170707.
We used Southern blot analysis and the polymerase chain reaction to analyze the tissue distribution of multiple mitochondrial DNA (mtDNA) deletions in a 45-year-old man with familial mitochondrial myopathy-Southern blots showed two major types of abnormal mtDNA with approximately 4- and 8-kilobase deletions in the skeletal and extraocular muscles. The amount of muscle mtDNA with deletions correlated approximately with the severity of muscle involvement. The polymerase chain reaction showed multiple mtDNA deletions even in clinically asymptomatic tissues, the pattern of which differed with the type of tissue. Nucleotide sequences of several mtDNAs with deletions showed that the deletions were flanked by direct repeats consisting of 3 to 12 nucleotides. Leukocytes from the patient's affected sister and his mother exhibited the same mtDNA deletion pattern. Most of the same deletions were present in leukocytes obtained from the patient's father.
我们运用Southern印迹分析和聚合酶链反应，对一名患有家族性线粒体肌病的45岁男性的多种线粒体DNA（mtDNA）缺失的组织分布进行了分析。Southern印迹显示，在骨骼肌和眼外肌中存在两种主要类型的异常mtDNA，分别有大约4千碱基和8千碱基的缺失。有缺失的肌肉mtDNA的量与肌肉受累的严重程度大致相关。聚合酶链反应显示，即使在临床无症状的组织中也存在多种mtDNA缺失，其模式因组织类型而异。几个有缺失的mtDNA的核苷酸序列表明，缺失两侧是由3至12个核苷酸组成的直接重复序列。患者患病姐妹和母亲的白细胞呈现出相同的mtDNA缺失模式。从患者父亲获得的白细胞中也存在大多数相同的缺失。
