Mitochondrial DNA Typing Screens With Control Region and Coding Region SNPs

Published

March 1, 2005

Author(s)

Margaret C. Kline, Peter M. Vallone, Janette W. Redman, David L. Duewer, C D. Calloway, John M. Butler

Abstract

Mitochondrial DNA (mtDNA) analysis has found an important niche in forensic DNA typing. It is used with highly degraded samples or low-copy number materials such as might be found from shed hair or bones exposed to severe environmental conditions. The primary advantage of mtDNA is that it is present in high copy number within cells and therefore more likely to be recovered from highly degraded specimens. A major disadvantage to traditional forensic mtDNA analysis is that it is time-consuming and labor-intensive to generate and review the 610 nucleotides of sequence information commonly targeted in hypervariable regions I and II (HVI and HVII) of the control region. In addition, common haplotypes exist in HVI/HVII mtDNA sequences that can reduce the ability to differentiate two unrelated samples. In this report we describe the utility of two newly available screening assays for rapid exclusion of non-matching samples. The LINEAR ARRAY mtDNA HVI/HVII Region-Sequencing Typing Kit (Roche Applied Science, Indianapolis, IN) was used to type 666 individuals from U.S. Caucasian, African American, and Hispanic groups. Processing of the LINEAR ARRAY probe panels mito strips was automated on a ProfiBlot workstation. Observable variation in 666 individuals is reported and frequencies of the mitotypes within and between populations are presented. Samples exhibiting the most common Caucasian mitotype were subdivided with a multiplexed amplification and detection assay using eleven single nucleotide polymorphisms in the mitochondrial genome. These types of screening assays should enable more rapid evaluation of forensic casework samples such that only samples not excluded would be subjected to further characterization through full HVI/HVII mtDNA sequence analysis.

Proceedings Title

Journal of Forensic Sciences

Volume

50

Issue

No. 2

Conference Dates

February 16-21, 2004

Conference Location

Dallas, TX

Conference Title

56th Annual Meeting of the American-Academy-of-Forensic-Sciences

Pub Type

Conferences

Keywords

DNA typing, forensic science, mitochondrial DNA coding region, mtDNA, primer extension, SSOprobes

Citation

Kline, M. , Vallone, P. , Redman, J. , Duewer, D. , Calloway, C. and Butler, J. (2005), Mitochondrial DNA Typing Screens With Control Region and Coding Region SNPs, Journal of Forensic Sciences, Dallas, TX (Accessed October 14, 2025)