Detection of mitochondrial DNA deletions by a screening procedure using the polymerase chain reaction

We describe an accurate procedure for a rapid diagnosis of heteroplasmic mtDNA deletions based on the polymerase chain reaction (PCR). For a selective amplification of deleted mtDNA across the breakpoints of the deletion, we used seven combinations of primers surrounding the most common deleted regi...

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Bibliographic Details
Published inMolecular and cellular biochemistry Vol. 174; no. 1-2; pp. 221 - 225
Main Authors Ferlin, T, Guironnet, G, Barnoux, M C, Dumoulin, R, Stepien, G, Mousson, B
Format Journal Article
LanguageEnglish
Published Netherlands Springer Nature B.V 01.09.1997
Subjects
Adolescent
Adult
Aged
Child
DNA, Mitochondrial - analysis
DNA, Mitochondrial - genetics
Female
Gene Deletion
Humans
Male
Mass Screening - methods
Middle Aged
Mitochondria, Muscle - genetics
Mitochondrial DNA
Polymerase chain reaction
Polymerase Chain Reaction - methods
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Summary:We describe an accurate procedure for a rapid diagnosis of heteroplasmic mtDNA deletions based on the polymerase chain reaction (PCR). For a selective amplification of deleted mtDNA across the breakpoints of the deletion, we used seven combinations of primers surrounding the most common deleted region between the two origins of mtDNA replication. This procedure was performed on muscle biopsies of twenty patients harboring a single mtDNA deletion and one patient with multiple mtDNA deletions. The results were compared with Southern-blotting analysis. We conclude that this PCR procedure is a sensitive and convenient screening method for the detection of mtDNA deletions.
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ISSN:0300-8177
1573-4919
DOI:10.1023/A:1006860508606