ABSTRACT
OBJECTIVES@#To analyse and detect CSF1PO and D18S51 loci by next generation sequencing （NGS） technology for the study on their sequence polymorphism.@*METHODS@#The peripheral blood samples were collected from 165 unrelated individuals of Chinese Han population. DNA samples were obtained by QIAamp DNA Mini kit. The library was constructed by Ion Plus Fragment Library. DNA sequencing analysis was performed on Ion Torrent PGM™ Platform. The newfound alleles were verified by Sanger sequencing. Data were analysed by Torrent Suite™ v5.0.2 and Integrative Genomics Viewer for the genotype identification and frequency count. The data were analysed statistically by PowerState v12.@*RESULTS@#The length and sequence polymorphisms of CSF1PO and D18S51 loci were simultaneously obtained by NGS technology. A new genotype was found on CSF1PO locus, and two new genotypes on D18S51 locus. Sanger sequencing was used to verify the newfound alleles found by NGS technology, and the results of verification showed consistency.@*CONCLUSIONS@#The structure of core repeats on CSF1PO and D18S51 loci was detected by NGS in this study for the improvement of the identifying performance of locus.