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目的： 对 ２ 例慢性进行性眼外肌麻痹（ｃｈｒｏｎｉｃ ｐｒｏｇｒｅｓｓｉｖｅ ｅｘｔｅｒｎａｌｏｐｈｔａｌｍ ｏｋｅｇｉａ，ＣＰＥＯ）患者的骨骼肌中的线粒体ＤＮＡ（ｍ ｔＤＮＡ）进行缺失突变分析。方法：用Ｓｏｕｔｈｅｒｎ 杂交和放射自显影等方法。结果：在２ 例ＣＰＥＯ 患者的骨骼肌标本中均存在线粒体ＤＮＡ 的单一的大片段缺失突变；缺失的长度分别为４．５ｋｂ 和５．５ｋｂ；突变型ｍ ｔＤＮＡ 在总体ｍ ｔＤＮＡ 中所占的比例分别为６４．６％ 和６４．２％ 。结论：上述发现支持ｍ ｔＤＮＡ 的缺失突变为ＣＰＥＯ 病因的观点
Objective: To analyze the deletion mutation of mitochondrial DNA (m tDNA) in skeletal muscle of 2 patients with chronic progressive external ophthalmoplegia (CPEO). Methods: Southern hybridization and autoradiography methods. Results: A single large fragment deletion mutation in mitochondrial DNA was found in skeletal muscle samples from two CPEO patients. The length of deletion was 4.5kb and 5.5kb, respectively. The proportion of mutant m tDNA in total m tDNA Respectively 64.6% and 64.2%. CONCLUSIONS: The above findings support the notion of mtDNA deletion mutation as the cause of CPEO