ABSTRACT
ObjectiveTo investigate the polymorphisms of 124 individual identiifcation SNPs in Chinese Han using the Ion Personal Genome Machine?(PGMTM).Method Samples from 130 unrelated Chinese Han individuals and two families (8 genealogical individuals) were ampliifed using Ion AmpliseqTM Library kit and sequenced on Ion Torrent PGM? platform.Results 14 148 SNPs were detected.A total of 99.992 9% SNPs were correctly called by the HID SNP Genotyper v4.3 plugin, while 0.007 1% wrongly reported and 62 NN calls needed manual correction. The MP ranged from 0.348 0 (rs2831700) to 0.817 3 (rs740910) with the value of 6.898 4 × 10-34 for CMP. The DP ranged from 0.182 7 (rs740910) to 0.652 0 (rs1355366) with the value of 0.999 999 999 999 999 999 999 999 999 999 999 310 2 for CDP, which was larger than that of 22 STR loci. The PE ranged from 0.007 3 (rs1024116) to 0.278 1 (rs1058083) with the value of 0.999 999 616 7 for CPE, which was smaller than that of 22 STR loci. A total of 8 Y-SNP haplo-types were observed from 72 unrelated male samples. No mutation was observed from pedigrees.Conclusion The 124 IISNPs were high polymorphic in Chinese Han and they were ideal markers for human identiifcation. The PGMTM platform has a potential role in forensic science.