mtDNA Long-Range PCR

Overview

Long-range PCR amplification of the entire mitochondrial genome followed by sequencing, enabling sensitive detection of somatic mtDNA mutations including low-heteroplasmy variants.

Used by

• Used in the TCGA ChRCC project on 61 of 66 tumors to sequence the full mitochondrial genome; identified 142 somatic mtDNA events (75 in the D-Loop), with MT-ND5 being the most frequently mutated Complex I gene (6/61 cases, all >70% heteroplasmy), enriched in eosinophilic histology. PMID:25155756

Notes

• Enables detection of heteroplasmic mtDNA mutations across the full 16.6 kb mitochondrial genome.
• In ChRCC, Complex I gene mutations were found in 11/61 (18%) cases; mtDNA copy number was ~4× elevated relative to normal kidney.

Sources

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