Characterization of mtDNA SNP typing using quantitative real-time PCR with special emphasis on heteroplasmy detection and mixture ratio assessment

摘要

Using a plasmid DNA model and total genomic DNA (gDNA) reference samples, we examined the performance and forensic utility of a quantitative allele-discriminatory real-time PCR assay relying on TaqMan probes targeting the mitochondrial single nucleotide polymorphism (mtSNP) 16519T/C. For allele-calling and allele proportion assessment we used absolute quantification of both alleles as well as relative quantification based on endpoint fluorescence.