PMID: 9171111Jun 15, 1997Paper

S1 nuclease hybrid analysis of mitochondrial DNA amplified by long-distance PCR: rapid screening for small-scale rearrangements

Nucleic Acids Research
K LundinF Hanefeld

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.

References

Mar 1, 1975·Proceedings of the National Academy of Sciences of the United States of America·T E ShenkP Berg
Aug 1, 1990·Neurology·W D ParkerJ K Parks
Apr 9, 1981·Nature·S AndersonI G Young
Feb 1, 1994·Molecular and Cellular Probes·B P ErnstF Hanefeld
Mar 15, 1994·Proceedings of the National Academy of Sciences of the United States of America·W M Barnes
Nov 1, 1993·Archives of Neurology·S DiMauro, C T Moraes

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