Assay Development and Validation of an 8-SNP Multiplex Test To Predict Eye and Skin Coloration

• NCJ Number: 249076
• Journal: Journal of Forensic Sciences Volume: 60 Issue: 4 Dated: July 2015 Pages: 990-1000
• Author(s): Vladimir Mushailov; Stephanie A. Rodriguez; Zoran M. Budimlija; Mechthild Prinz; Elisa Wurmbach
• Date Published: July 2015
• Length: 11 pages
• Grant Number(s): 2010-DN-BX-K181
• Sponsoring Agency: National Institute of Justice (NIJ)
• Publication Format: Article; Document (Online)
• Publication Type: Research (Applied/Empirical); Report (Study/Research); Report (Grant Sponsored)
• Language: English
• Country: United States of America

Annotation

This article describes the development and validation of an 8-SNP multiplex assay that consists of a multiplex PCR, followed by a multiplexed single-base primer extension reaction generating fluorescently labeled oligonucleotides of distinct length that are detected by multicolor capillary electrophoresis.

Abstract

Identifying human remains is one of the many responsibilities of forensic scientists. An eye- and skin-color predictor translates genotypic information into phenotypic description. Eight single nucleotide polymorphisms (SNPs) are used for this predictor, five for eye, and six for skin coloration. This article concludes that the 8-SNP multiplex assay is robust and can be used on challenging samples, including bones, to reliably determine the genotypes to predict eye and skin color of individuals. This information can assist in the identification of human remains and missing persons. The validation of this assay included tests for reproducibility, reliability, sensitivity, species specificity, its performance on degraded DNA, and on forensic samples. (Publisher abstract modified)