两种进口试剂盒在福建汉族人群STR基因分型中的一致性验证及应用

Consistency verification of the application of PowerPlex~ Fusion and GlobalFiler~ kits in Fujian Han population

目的确认PowerPlexFusion与GlobalFiler试剂盒基因分型结果的一致性。方法收集2 410名福建地区无关汉族个体血样并提取基因组DNA。采用PowerPlexFusion与GlobalFiler试剂盒检测个体的STR座位,观察20个重叠常染色体STR基因座及1个Y（DYS391）基因座分型结果的一致性。并比较分析这2个试剂盒在日本、韩国人群应用评价的结果。结果所有20个重叠常染色体STR基因座除D21S11、D22S1045和D5S818基因座观察到4例标本基因分型结果不一致外（占标本总数的0.17%）,其他17个常染色体STR和DYS391基因分型结果均一致。2个试剂盒20个相同STR常染色体基因座基因型一致率为99.992%。2个试剂盒的杂合基因座峰高比例差异无统计学意义（P〉0.05）。结论 PowerPlexFusion与GlobalFiler试剂盒基因分型一致性较好,在需要确认是否为无效等位基因时可互为补充。

Objective To investigate the consistency of genotyping results generated using PowerPlex~Fusion and Global Filer~kits. Methods Blood samples were collected from 2410 unrelated Chinese Fujian Han population andthe genomic DNA was extracted with Chelexmethod. PowerPlex~Fusion and Global Filer~kits were then used to detect STR loci.We observed the consistency of 20 overlapped autosomal STR loci and 1 Y（ DYS391） loci. The results of the evaluation of the two kits were compared to data applied in Japan and South Korea population.Results Of the 20 overlapping autosomal STR loci,D21 S11,D22 S1045 and D5 S818 loci showed 4 samples withinconsistent genotyping results（0. 17% of the total sample） while the other 17 autosomal STR genotyping results were in consistency with that of DYS391 genotyping. The rate of concordance of 20 identical STR autosomal loci of the two kits was 99. 992%. There was no significant difference in the peak ratio of the heterozygous pedestal of the two kits（ P〉0. 05）.Conclusion The PowerPlexFusion kit presents good concordance with the Global Filer~kit in genotyping.Both could be used to complement each other,especially for the confirmation of null allele and cross-checking of individual profiles.