Schneider Peter M
Institute of Legal Medicine, Medical Faculty, University of Cologne, Germany.
Transfus Med Hemother. 2012 Jun;39(3):176-180. doi: 10.1159/000339139. Epub 2012 May 15.
Short tandem repeat (STR) polymorphisms have been firmly established as standard DNA marker systems since more than 15 years both in forensic stain typing as well as in paternity and kinship testing. However, when analyzing genetic relationships in deficiency cases, STRs have a couple of disadvantages due to the sometimes poor biostatistical efficiency as well as the possibility to observe one or more genetic inconsistencies that could also be explained by mutational events. In such situations, additional robust markers with negligible mutations rates such as single nucleotide polymorphisms (SNPs) and insertion/deletion markers (indels) can be used as adjuncts to provide decisive genetic information in favor for or against the assumed relationship. Both SNPs and indels can now be typed more easily using multiplexes of up to 50 loci based on fragment length analysis on instruments available in all routine forensic and paternity testing laboratories, thus making it possible to extend the range of markers beyond the currently used STRs.
自15年多以来，短串联重复序列（STR）多态性已被牢固确立为法医血迹分型以及亲子鉴定和亲属关系检测中的标准DNA标记系统。然而，在分析缺失案例中的遗传关系时，由于有时生物统计学效率不佳以及可能观察到一个或多个也可由突变事件解释的遗传不一致性，STR存在一些缺点。在这种情况下，可以使用突变率可忽略不计的其他稳健标记，如单核苷酸多态性（SNP）和插入/缺失标记（indel）作为辅助手段，以提供支持或反对假定关系的决定性遗传信息。现在，基于所有常规法医和亲子鉴定实验室中可用仪器的片段长度分析，使用多达50个位点的多重检测可以更轻松地对SNP和indel进行分型，从而有可能将标记范围扩展到当前使用的STR之外。
