Phillips C
Forensic Genetics Unit, Institute of Legal Medicine, University of Santiago de Compostela, Santiago de Compostela, Galicia, Spain.
Forensic Sci Rev. 2012 Jan;24(1):43-62.
The potential applications of short binary markers to forensic analysis are reviewed. Short binary markers are the most common human genomic variation and include single nucleotide polymorphisms (SNPs) and insertion/deletion polymorphisms (Indels). This review outlines their use and performance in typing highly degraded DNA - the original rationale for developing SNPs for forensic analysis - as well as their ability to infer the ancestry or likely pigmentation characteristics of an individual not present on a national DNA database, thus potentially providing investigative leads. Throughout the review, reference is made to short Indels as a new and potentially powerful alternative to SNPs for enhancing short tandem repeat (STR) results by using a simple amplification to capillary electrophoresis (PCR-to-CE) technique that retains the direct relationship between input DNA and signal strength, offering much improved mixture-detection capabilities while retaining the favorable characteristics of short amplicon PCR.
本文综述了短二元标记在法医分析中的潜在应用。短二元标记是最常见的人类基因组变异,包括单核苷酸多态性(SNP)和插入/缺失多态性(Indel)。本综述概述了它们在高度降解DNA分型中的应用和性能——这是开发用于法医分析的SNP的最初基本原理——以及它们推断未在国家DNA数据库中的个体的祖先或可能的色素沉着特征的能力,从而有可能提供调查线索。在整个综述中,短Indel被作为SNP的一种新的且可能强大的替代物提及,通过使用一种简单的从聚合酶链反应到毛细管电泳(PCR-CE)的技术来增强短串联重复序列(STR)结果,该技术保留了输入DNA与信号强度之间的直接关系,在保留短扩增子PCR有利特性的同时,提供了大大改进的混合检测能力。