基因突变与/或近亲？六个案例工作中使用了 49 个常染色体 SNP 作为补充标记。
Mutations and/or close relatives? Six case work examples where 49 autosomal SNPs were used as supplementary markers.
机构信息
Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health Sciences, University of Copenhagen, 11 Frederik V's Vej, DK-2100 Copenhagen, Denmark.
出版信息
Forensic Sci Int Genet. 2011 Jun;5(3):236-41. doi: 10.1016/j.fsigen.2010.02.007. Epub 2010 Mar 29.
Six case work examples are presented, where the individuals were typed for 15 autosomal short tandem repeats (STRs) and 49 autosomal single nucleotide polymorphisms (SNPs). The 15 STRs were typed with the AmpFlSTR Identifiler PCR Amplification Kit and the 49 SNPs were typed with the SNPforID multiplex assay. The six cases included two duos, two trios and two cases, where the alleged father was not available for testing and one or two of his close relatives were tested instead. The SNP investigation was more informative than the STR investigation in all six cases. In two cases, the alleged father would have been falsely included based on the STR results, while the SNP results showed that the alleged father was not the true parent. These case work examples underline the importance of performing supplementary investigations in selected cases and demonstrate the usefulness of the SNPforID multiplex assay.
呈现了六个案例工作示例，其中个体进行了 15 个常染色体短串联重复序列（STRs）和 49 个常染色体单核苷酸多态性（SNPs）分型。15 个 STRs 采用 AmpFlSTR Identifiler PCR 扩增试剂盒进行分型，49 个 SNPs 采用 SNPforID 多重检测试剂盒进行分型。这六个案例包括两个双人组、两个三人组和两个案例，在这些案例中，据称的父亲无法进行测试，而是测试了他的一个或两个近亲。在所有六个案例中，SNP 调查比 STR 调查提供了更多信息。在两个案例中，根据 STR 结果，据称的父亲本应被错误地包括在内，而 SNP 结果表明，据称的父亲不是真正的父母。这些案例工作示例强调了在选定案例中进行补充调查的重要性，并证明了 SNPforID 多重检测试剂盒的有用性。
Zotero 插件