Abstract
Mitochondrial DNA (mtDNA) single nucleotide polymorphisms (SNPs) have been extensively applied as supplement for HV I and HV II sequencing. They have been proved even more effective for detecting highly degraded samples, hair shaft and bone samples. However, some mtDNA SNPs which had high polymorphisms in database could not be used in Chinese Han population due to ethnic differences. The pyrosequencing (PSQ) technology, including universal primer applications and pooling samples, could reduce assay cost and improved efficiency of screening SNPs. In this study, we aimed to screen a set of mtDNA SNPs which has enough polymorphisms in Chinese Han population. We analyzed 21 candidate SNPs and estimated allelic frequencies using PSQ with pooling samples. Our results revealed that there were nine mtDNA SNPs with enough polymorphisms in Chinese Han population. In conclusion, PSQ was an effective method in screening mtDNA SNPs. A total of nine mtDNA SNPs would be used as candidate markers for forensic purpose.
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