Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2000-11-20

AUTHORS

Hirofumi Komaki, Ikuya Nonaka, Jun Akanuma, Kae Muraki, Yu-ichi Goto

ABSTRACT

Technical advancements in molecular genetics have shown various mitochondrial DNA (mtDNA) abnormalities in patients with mitochondrial myopathies. Recently, it has been revealed that, in these patients, the nuclear DNA carries sequences similar to those of the mtDNA (nuclear pseudogene) and it has several point mutations previously reported to be pathogenic. We verified the existence of the T3250C and T3291C mutations, which we have found in patients with mitochondrial myopathy, in the authentic mitochondrial genome. A long polymerase chain reaction provides a powerful tool for avoiding nuclear pseudogene amplification and for ruling out ambiguity in the detection of the mutation for diagnosis. More... »

PAGES

jhg200072

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s100380070004

DOI

http://dx.doi.org/10.1007/s100380070004

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1027203910

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/11185741


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