Pontes M Lurdes, Fondevila Manuel, Laréu Maria Victoria, Medeiros Rui
Laboratório de Genética e Biologia Forenses, National Institute of Legal Medicine and Forensic Sciences, North Delegation, Porto, Portugal; CENCIFOR- Forensic Science Center, Porto, Portugal.
Instituto de Ciencias Forenses, Universidade de Santiago de Compostela, Santiago de Compostela, Spain.
Transfus Med Hemother. 2015 Nov;42(6):385-8. doi: 10.1159/000440832. Epub 2015 Nov 4.
DNA profiling with sets of highly polymorphic autosomal short tandem repeat (STR) markers has been applied in various aspects of human identification in forensic casework for nearly 20 years. However, in some cases of complex kinship investigation, the information provided by the conventionally used STR markers is not enough, often resulting in low likelihood ratio (LR) calculations. In these cases, it becomes necessary to increment the number of loci under analysis to reach adequate LRs. Recently, it has been proposed that single nucleotide polymorphisms (SNPs) could be used as a supportive tool to STR typing, eventually even replacing the methods/markers now employed.
In this work, we describe the results obtained in 7 revised complex paternity cases when applying a battery of STRs, as well as 52 human identification SNPs (SNPforID 52plex identification panel) using a SNaPshot methodology followed by capillary electrophoresis.
Our results show that the analysis of SNPs, as complement to STR typing in forensic casework applications, would at least increase by a factor of 4 total PI values and correspondent Essen-Möller's W value.
We demonstrated that SNP genotyping could be a key complement to STR information in challenging casework of disputed paternity, such as close relative individualization or complex pedigrees subject to endogamous relations.
使用高度多态性的常染色体短串联重复序列（STR）标记进行DNA分型已在法医案件工作中的人类身份鉴定的各个方面应用了近20年。然而，在一些复杂亲缘关系调查的案例中，传统使用的STR标记所提供的信息并不足够，常常导致似然比（LR）计算值较低。在这些情况下，有必要增加分析的基因座数量以获得足够的似然比。最近，有人提出单核苷酸多态性（SNP）可作为STR分型的辅助工具，甚至最终取代目前使用的方法/标记。
在这项工作中，我们描述了对7个经修订的复杂亲子鉴定案例应用一系列STR以及52个用于人类身份鉴定的SNP（SNPforID 52plex鉴定试剂盒），采用SNaPshot方法并随后进行毛细管电泳所获得的结果。
我们的结果表明，在法医案件工作应用中，将SNP分析作为STR分型的补充，至少会使累积父权指数（PI）值和相应的埃森-默勒氏W值增加4倍。
我们证明，在有争议的亲子鉴定的具有挑战性的案件工作中，如近亲个体识别或受近亲结婚关系影响的复杂谱系，SNP基因分型可能是STR信息的关键补充。
