Børsting Claus, Mikkelsen Martin, Morling Niels
Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health Sciences, University of Copenhagen, Denmark.
Transfus Med Hemother. 2012 Jun;39(3):195-201. doi: 10.1159/000338957. Epub 2012 May 12.
The mutation rate of single nucleotide polymorphisms (SNPs) is estimated to be 100,000 times lower than that of short tandem repeats (STRs), which makes SNPs very suitable for relationship testing. The SNPforID multiplex assay was the first SNP typing assay that was a real alternative to the commonly used STR kits in kinship and crime case work and the first SNP assay to be validated in a forensic laboratory accredited according to the ISO17025 standard. METHODS: A total of 54 crime case samples were typed with the SNPforID multiplex assay. 30 samples from relationship cases were sequenced in selected SNP loci. RESULTS: It was demonstrated that mixtures were easily detected with the SNPforID assay by analyzing the signal strengths of the detected alleles. Unusual imbalances in signal strengths that were observed in a few individuals could be explained by unexpected SNPs in one of the primer binding sites. A complicated relationship case with four closely related individuals is presented. CONCLUSION: Mixtures can be detected with bi-allelic SNPs. The SNPforID assay is a very useful supplement to the STR kits in relationship testing.
单核苷酸多态性（SNP）的突变率估计比短串联重复序列（STR）低100,000倍，这使得SNP非常适合亲缘关系检测。SNPforID多重检测法是第一种SNP分型检测法，它是亲缘关系和犯罪案件工作中常用STR试剂盒的真正替代品，也是第一种在根据ISO17025标准认可的法医实验室中得到验证的SNP检测法。方法：使用SNPforID多重检测法对总共54个犯罪案件样本进行分型。对30个亲缘关系案件的样本在选定的SNP位点进行测序。结果：通过分析检测到的等位基因的信号强度，证明使用SNPforID检测法可以轻松检测到混合样本。在少数个体中观察到的信号强度异常不平衡可以通过引物结合位点之一中意外出现的SNP来解释。展示了一个涉及四个密切相关个体的复杂亲缘关系案例。结论：可以使用双等位基因SNP检测到混合样本。SNPforID检测法是亲缘关系检测中STR试剂盒的非常有用的补充。
