Article
Digital Polymerase Chain Reaction for Assessment of Mutant Mitochondrial Carry-over after Nuclear Transfer for In Vitro Fertilization.
Clinical chemistry - 6 Jul 2021
Tytgat Olivier, Tang Mao-Xing, van Snippenberg Willem, Boel Annekatrien, Guggilla Ramesh Reddy, Gansemans Yannick, Van Herp Michiel, Symoens Sofie, Trypsteen Wim, Deforce Dieter, Heindryckx Björn, Coucke Paul, De Spiegelaere Ward, Van Nieuwerburgh Filip
Abstract excerpt
BACKGROUND: The quantification of mitochondrial DNA heteroplasmy for the diagnosis of mitochondrial disease or after mitochondrial donation, is performed mainly using next-generation sequencing strategies (NGS). Digital PCR (dPCR) has the potential to offer an accurate alternative for mutation load quantification. METHODS: We assessed the mutation load of 23 low-input human samples at the m.11778 locus, which is...
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