【摘要】 目的应用Ion Torrent PGM^TM测序平台检测中国汉族群体124个身份鉴定SNPs（individual identification SNPs,IISNP）的多态性信息。方法采用Ion Ampliseq^TMLibrary试剂盒对中国汉族130个无关个体样本及2个家系共8个个体的124个SNPs（90个常染色体SNPs和34个Y染色体SNPs）进行复合扩增,在Ion Torrent PGM^TM测序平台上检测。结果中国汉族130个无关个体应得14 148个SNP分型,其中软件给出分型结果14 086个,正确14 085个（99.992 9%）,分型偏倚1例（0.007 1%）。软件未报SNP分型62例,需人工校正分析。在90个常染色体SNPs中,MP值最高为0.817 3（rs740910）,最低为0.348 0（rs2831700）,CMP为6.8984×10^-34;DP值最高为0.652 0（rs1355366）,最低为0.182 7（rs727811）,CDP为0.999 999 999 999 999 999 999999 999 999 999 310 2,高于22个STRs的CDP;PE值最高为0.278 1（rs1058083）,最低为0.007 3（rs1024116）,CPE为0.999 999 616 7,低于22个STRs的CPE。在34个Y-SNPs中,72个中国汉族男性无关个体共观察到8种单倍型。家系样本分型结果未发现突变,均符合遗传规律。结论 124个身份鉴定SNPs在中国汉族群体中具有良好的遗传多态性,是理想的个体识别遗传标记。Ion Torrent PGM^TM平台在法庭科学领域有较好的应用价值。更多还原

【Abstract】 Objective To investigate the polymorphisms of 124 individual identification SNPs in Chinese Han using the Ion Personal Genome Machine^TM(PGM^TM).Method Samples from 130 unrelated Chinese Han individuals and two families（8 genealogical individuals） were amplified using Ion Ampliseq^TM Library kit and sequenced on Ion Torrent PGM^TM platform.Results 14148 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 999310 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 haplotypes were observed from 72 unrelated male samples.No mutation was observed from pedigrees.Conclusion The124 IISNPs were high polymorphic in Chinese Han and they were ideal markers for human identification.The PGM^TMplatform has a potential role in forensic science.更多还原