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

• Published in: Molecular 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
• Language: English
• 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

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...