通过长距离聚合酶链反应扩增的线粒体DNA的S1核酸酶杂交分析：小规模重排的快速筛查
S1 nuclease hybrid analysis of mitochondrial DNA amplified by long-distance PCR: rapid screening for small-scale rearrangements.
作者信息
Lundin K, Wilichowski E, Ernst B P, Hanefeld F
机构信息
Universitäts-Kinderklinik, Abteilung Pädiatrie/Neuropädiatrie, Robert-Koch-Strasse 40, D-37075 Göttingen, Germany.
出版信息
Nucleic Acids Res. 1997 Jun 15;25(12):2535-6. doi: 10.1093/nar/25.12.2535.
Abstract
We report on a method suitable for screening large regions (>3 kb) of mtDNA for structural changes of <500 bp and their localization. Heteroduplexes consisting of a wild-type and a mutant strand are cleaved by S1nuclease when single-stranded loops are present due to deletions or duplications/insertions. This strategy was successfully applied to screen the muscle mtDNA of 20 patients with mitochondrial encephalomyopathies. In three of them, an altered cleavage pattern was observed caused by a homoplasmic 9 bp deletion as shown by subsequent mapping and sequencing studies.
摘要
我们报告了一种适用于筛查线粒体DNA（mtDNA）大片段（>3 kb）中小于500 bp的结构变化及其定位的方法。当由于缺失或重复/插入而出现单链环时，由野生型和突变链组成的异源双链体可被S1核酸酶切割。该策略已成功应用于筛查20例线粒体脑肌病患者的肌肉mtDNA。其中3例患者观察到切割模式改变，后续的定位和测序研究表明这是由均质性9 bp缺失引起的。
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