Development of Forensic-Quality Full mtGenome Haplotypes: Success Rates with Low Template Specimens

• NCJ Number: 246521
• Journal: Forensic Science International: Genetics Volume: 10 Dated: May 2014 Pages: 73-79
• Author(s): Rebecca S. Just; Melissa K. Scheible; Spence A. Fast; Kimberly Sturk-Andreaggi; Jennifer L. Higginbotham; Elizabeth A. Lyons; Jocelyn M. Bush; Michelle A. Peck; Joseph D. Ring; Toni M. Diegoli; Alexander W. Rock; Gabriela E. Huber; Simone Nagl; Christina Strobl; Bettina Zimmermann; Walther Parson; Jodi A. Irwin
• Date Published: May 2014
• Length: 7 pages
• Grant Number(s): 2011-MU-MU-K402
• Sponsoring Agency: National Institute of Justice (NIJ)
• Publication Format: Article
• Publication Type: Research (Applied/Empirical)
• Language: English
• Country: United States of America

Annotation

This article discusses the application of a data generation and analysis workflow to the development of forensic-quality full mtGenome haplotypes.

Abstract

This paper reports on efforts to increase the large-scale availability of high-quality entire mtGenome reference population data and improve the information technology infrastructure required to access/search such data and use it in forensic casework. The specific work reported in this paper deals with the data generation portion of the project and the development of 433 of the expected 550 forensic-quality mtGenome haplotypes from low template specimens. The paper discusses the application of an automated mtGenome sequencing protocol and multi-step data analysis workflow to forensic samples with a very low quantity of DNA. The samples used in these efforts were anonymized blood serum specimens obtained from the U.S. Department of Defense Serum Repository. Amplification and sequencing of the samples resulted in a database containing 263 and 170 entire mtGenome haplotypes for the U.S. Caucasian and African-American population groups, respectively. Implications for how this data can be used in future research efforts are discussed. 6 figures, 1 appendix, and 16 references