Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark.
Transfusion. 2012 Feb;52(2):425-30. doi: 10.1111/j.1537-2995.2011.03260.x. Epub 2011 Jul 25.
In some relationship cases, the initial investigations of autosomal short tandem repeats (STRs) lead to an ambiguous conclusion and supplementary investigations become necessary.
Six unusual paternity cases were previously investigated by other researchers and published as case work examples in forensic journals. Here, the cases were reinvestigated by typing the samples for 49 autosomal single-nucleotide polymorphisms (SNPs) using the SNPforID multiplex assay.
Three cases were solved by the SNP investigation without the need for any additional testing. In two cases, the SNP results supported the conclusions based on STRs. In the last case, the SNP results spoke in favor of paternity, and the combined paternity index based on autosomal STRs and SNPs was 12.3 billion. Nevertheless, the alleged father was excluded by X-chromosome typing.
The case work examples underline the importance of performing supplementary investigations, and they advocate for the implementation of several panels that may be used in the highly unusual cases. Panels with SNPs or other markers with low mutation probabilities are preferable as supplementary markers, because the risk of detecting (additional) mutations is very low.
在某些亲缘关系案例中，常染色体短串联重复序列（STR）的初步检测结果存在模棱两可，因此需要进行补充检测。
先前，有六位不寻常的亲子案例已由其他研究人员进行了调查，并作为法庭科学期刊中的案例工作示例发表。在这里，我们使用 SNPforID 多重检测试剂盒对这些样本进行了 49 个常染色体单核苷酸多态性（SNP）的分型检测，对这些案例进行了重新调查。
SNP 调查解决了其中三个案例，无需进行任何其他检测。在两个案例中，SNP 结果支持基于 STR 得出的结论。在最后一个案例中，SNP 结果支持亲子关系，基于常染色体 STR 和 SNP 的联合亲权指数为 123 亿。然而，X 染色体分型却排除了疑似父亲。
这些案例工作示例强调了进行补充检测的重要性，并主张在高度异常的案例中实施多个可能会用到的检测panel。SNP 或其他突变概率较低的标记作为补充标记更好，因为检测（额外）突变的风险非常低。
