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Application of Autosomal SNPs and Indels in Forensic Analysis
1Forensic Genetics Unit, Institute of Legal Medicine, University of Santiago de Compostela, Santiago de Compostela, Galicia, Spain. c.phillips@mac.com.
Abstract:
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.
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