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A rapid and sensitive PCR screening method for point mutations associated with mitochondrial encephalomyopathies.

Abstract：

:Alterations of the mitochondrial DNA, encoding important parts of the cellular energy-generating system (oxidative phosphorylation, OXPHOS), are often associated with the occurrence of degenerative neuromuscular diseases. Especially point mutations in the mitochondrial tRNA genes, which cannot be complemented by the nuclear encoded tRNAs, are candidates for severe defects of the OXPHOS system. An A to G transition at nt 8344 in the tRNA(Lys) gene has been associated with MERRF disease whereas an A to G substitution at nt 3243 in the tRNA(Leu) gene has been linked to the MELAS syndrome. These two mtDNA alterations as well as point mutations in protein-coding genes can be detected simultaneously by an allele-specific amplification of the altered mtDNA. This assay allows the reliable detection of heteroplasmic point-mutations, even if the mutated DNA appears to a small extent of less than 1%.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Seibel P,Flierl A,Kottlors M,Reichmann H

doi

10.1006/bbrc.1994.1540

subject

Has Abstract

pub_date

1994-04-29 00:00:00

pages

938-42

issue

2

eissn

0006-291X

issn

1090-2104

pii

S0006-291X(84)71540-3

journal_volume

200

pub_type

杂志文章

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