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Rapid Mitochondrial Genome Mutation Scanning

We developed a novel assay kit facilitating the rapid, reliable and highly sensitive discovery of mtDNA mutations using multiplex DHPLC (denaturing high performance liquid chromatography) on the WAVE® System. Human total DNA is used as template for amplification of the mitochondrial genome using 19 primer sets. The resulting overlapping fragments range in size from 300-1500bp. Four of these fragments can be used for conventional DHPLC analysis. The remaining 15 fragments undergo a subsequent restriction digestion step to produce a collection of fragments that can be analyzed by multiplex DHPLC.

The MitoScreen™ Assay Kit provides all of the reagents and protocols necessary to screen human genomic DNA populations on the WAVE® System for heteroplasmic mutations present in the mitochondrial genome. Click here to familiarize yourself with the procedure: With Sound or Without Sound

The MitoScreen Assay Kit allows you to:

  • screen the entire mitochondrial genomic in < 8 hours on a WAVE System 3500HT;
  • detect low levels of heteroplasmic mutations;
  • discover known and unknown mutations at very high efficiency using DHPLC;
  • benefit from fully automated, cost effective analysis on the WAVE System.

For further information about the design of the MitoScreen Kit, click here.

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