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- Title
Simultaneous Detection of Human Mitochondrial DNA and Nuclear-Inserted Mitochondrial-origin Sequences (NumtS) using Forensic mt DNA Amplification Strategies and Pyrosequencing Technology.
- Authors
Bintz, Brittania J.; Dixon, Groves B.; Wilson, Mark R.
- Abstract
Next-generation sequencing technologies enable the identification of minor mitochondrial DNA variants with higher sensitivity than Sanger methods, allowing for enhanced identification of minor variants. In this study, mixtures of human mt DNA control region amplicons were subjected to pyrosequencing to determine the detection threshold of the Roche GS Junior® instrument (Roche Applied Science, Indianapolis, IN). In addition to expected variants, a set of reproducible variants was consistently found in reads from one particular amplicon. A BLASTn search of the variant sequence revealed identity to a segment of a 611-bp nuclear insertion of the mitochondrial control region (NumtS) spanning the primer-binding sites of this amplicon ( Nature 1995;378:489). Primers ( Hum Genet 2012;131:757; Hum Biol 1996;68:847) flanking the insertion were used to confirm the presence or absence of the NumtS in buccal DNA extracts from twenty donors. These results further our understanding of human mt DNA variation and are expected to have a positive impact on the interpretation of mt DNA profiles using deep-sequencing methods in casework.
- Subjects
MITOCHONDRIA; GENE amplification; FORENSIC sciences; NUCLEIC acid isolation methods; PSEUDOGENES
- Publication
Journal of Forensic Sciences, 2014, Vol 59, Issue 4, p1064
- ISSN
0022-1198
- Publication type
Article
- DOI
10.1111/1556-4029.12441