Klopstock T, Bischof F, Gerok K, Deuschl G, Seibel P, Ketelsen U P, Reichmann H
Department of Neurology, University of Würzburg, Germany.
Acta Neuropathol. 1995;90(2):126-9. doi: 10.1007/BF00294310.
Mitochondrial DNA (mtDNA) deletions have been found in the majority of patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. A large number of different mtDNA deletions have been identified. They generally spare the two origins of replication and are frequently flanked by direct or indirect repeats. We have found a 3.1-kb deletion of mtDNA in a patient with Kearns-Sayre syndrome that has some unusual features. First, it encompasses nucleotides 11259 to 14368, a localization that was not described before. Second, the deletion is not flanked by direct or indirect repeats, supporting the view that homologous recombination and slip-replication do not account for all mtDNA deletions.
在大多数慢性进行性眼外肌麻痹和卡恩斯-塞尔综合征患者中发现了线粒体DNA（mtDNA）缺失。已鉴定出大量不同的mtDNA缺失。它们通常保留两个复制起点，并且经常侧翼有正向或反向重复序列。我们在一名患有卡恩斯-塞尔综合征的患者中发现了一个3.1 kb的mtDNA缺失，该缺失具有一些不寻常的特征。首先，它涵盖了核苷酸11259至14368，这是之前未描述过的定位。其次，该缺失侧翼没有正向或反向重复序列，这支持了同源重组和滑链复制不能解释所有mtDNA缺失的观点。
