Simple detection of tRNA Lys mutation in myoclonus epilepsy associated with ragged‐red fibers (MERRF) by polymerase chain reaction with a mismatched primer

Publisher Website
Google Scholar
Abstract
We developed a simple method for the detection of a tRNALys mutation in myoclonus epilepsy associated with ragged-red fibers (MERRF) by polymerase chain reaction with use of a mismatched primer. Although the tRNALys mutation does not alter recognition sequences for commercially available restriction enzymes, we have successfully changed two nucleotides flanking the A to G mutation at nucleotide position 8344 in a tRNALys gene of a mitochondrial genome. As a result, the mutation can be detected as a Nae I restriction fragment length polymorphism. With this method, all eight MERRF patients and an asymptomatic mother of a MERRF patient, from six independent families, had the same tRNALys mutation. Our method is simple and should also be useful for the quantitation of heteroplasmies.

This publication has 0 references indexed in Scilit: