Method and system for detecting mtDNA mutations

A method for detecting mitochondrial DNA (mtDNA) mutations in cells to be tested, comprising:

• (a) extracting mtDNA from the cells;
• (b) subjecting different predetermined regions of the mtDNA to PCR amplification to obtain amplification products of the different predetermined regions, wherein the different predetermined regions of the mtDNA are superimposed to form a full-length mtDNA;
• (c) mixing the amplification products of the different predetermined regions to obtain a nucleic acid sequencing library of the full-length mtDNA;
• (d) subjecting the nucleic acid sequencing library to sequencing to obtain a sequencing result;
• and
• (e) determining the mtDNA mutations in the cells based on the sequencing result,
• wherein the number of the cells is one to four, the cell is an egg cell,
• wherein the different predetermined regions of the mtDNA comprises a mitochondrial genome 3561-9794 region, a mitochondrial genome 9795-14567 region, a mitochondrial genome 14562-139 region and a mitochondrial genome 115-3560 region,
• wherein primers for the PCR amplification comprise the sequences shown in SEQ ID NOS:
• 1-8.