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Development of a Heteroplasmic Mitochondrial DNA Standard Reference Material for Detection of Heteroplasmy and Low Frequency Mutations

Published

Author(s)

L A. Tully, Frederick P. Schwarz, Barbara C. Levin

Abstract

The National Institute of Standards and Technology (NIST) is developing a heteroplasmic human mitochondrial DNA (mtDNA) standard reference material (SRM) to provide quality control to medical, forensic, and toxicological scientistswho wish to determine their detection limits when examining low frequency mutations or heteroplasmic sites in DNA. The detection of a mutation or polymorphism that is present in every mtDNA molecule is routine. However, in many cases, especially disease-prone individuals, the disease does not become apparent until a significant number of mtDNA molecules contain the mutation. The proportion of mutant mtDNA genomes appears to increase with age (i.e., the mutation becomesmore predominant in older individuals, who then exhibit the disease symptoms). Heteroplasmy has also become problematic to the forensic community. It is very difficult to detect heteroplasmy present at low concentrations. Different hairs from the same individual can have different proportions of the base pairs contributing to the heteroplasmy. The presence of such heteroplasmic differences may result in an exclusion rather than a match. Toxicologists would like to detect mutations thatarise in mtDNA from environmental exposures. With the present state-of-the-art techniques, however, low frequency mutations scattered throughout the DNA are almost impossible to detect.
Proceedings Title
Sigma Xi Post Doctoral Poster Presentations, 2000
Conference Dates
February 17-18, 2000
Conference Title
Sigma Xi Web Page

Keywords

heteroplasmic human mtDNA, heteroplasmic sites in DNA, heteroplasmy, low frequency mutations, mutation, polymorphism, SRM, Standard Reference Material

Citation

Tully, L. , Schwarz, F. and Levin, B. (2000), Development of a Heteroplasmic Mitochondrial DNA Standard Reference Material for Detection of Heteroplasmy and Low Frequency Mutations, Sigma Xi Post Doctoral Poster Presentations, 2000 (Accessed March 4, 2024)
Created February 1, 2000, Updated February 17, 2017