Abstract
There is a growing interest among forensic geneticists in developing efficient protocols
for genotyping coding region mitochondrial DNA (mtDNA) SNPs (mtSNPs). Minisequencing
is becoming a popular method for SNP genotyping, but it is still used by few forensic
laboratories. In part, this is due to the lack of studies testing its efficiency and
reproducibility when applied to real and complex forensic samples. Here we tested
a minisequencing design that consists of 71 mtSNPs (in three multiplexes) that are
diagnostic of known branches of the R0 phylogeny, in real forensic samples, including
degraded bones and teeth, hair shafts, and serial dilutions. The fact that amplicons
are short coupled with the natural efficiency of the minisequencing technique allow
these assays to perform well with all the samples tested either degraded and/or those
containing low DNA amount. We did not observe phylogenetic inconsistencies in the
71 mtSNP haplotypes generated, indicating that the technique is robust against potential
artefacts that could arise from unintended contamination and/or spurious amplification
of nuclear mtDNA pseudogenes (NUMTs).
Keywords
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References
- Phylogeographic investigations: the role of trees in forensic genetics.Forensic Sci. Int. 2007; 168: 1-13
- Rapid and enhanced detection of mitochondrial DNA variation using single-strand conformation analysis of superposed restriction enzyme fragments from polymerase chain reaction-amplified products.Electrophoresis. 1997; 18: 52-54
- Fluorescent SSCP of overlapping fragments (FSSCP-OF): a highly sensitive method for the screening of mitochondrial DNA variation.Forensic Sci. Int. 2001; 124: 97-103
- Coding region mitochondrial DNA SNPs: targeting East Asian and Native American haplogroups.Forensic Sci. Int.: Genet. 2007; 1: 44-55
- More evidence for non-maternal inheritance of mitochondrial DNA?.J. Med. Genet. 2005; 42: 957-960
- Problems in FBI mtDNA database.Science. 2004; 305: 1402-1404
- Artificial recombination in forensic mtDNA population databases.Int. J. Legal Med. 2004; 118: 267-273
- A critical reassessment of the role of mitochondria in tumorigenesis.PLoS Med. 2005; 2: e296
- Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing.Forensic Sci. Int. 2004; 140: 251-257
- A multiplex allele-specific primer extension assay for forensically informative SNPs distributed throughout the mitochondrial genome.Int. J. Legal Med. 2004; 118: 147-157
- Dissection of mitochondrial superhaplogroup H using coding region SNPs.Electrophoresis. 2006; 27: 2541-2550
- Multiplex amplified product-length polymorphism analysis of 36 mitochondrial single-nucleotide polymorphisms for haplogrouping of East Asian populations.Electrophoresis. 2005; 26: 91-98
- Multiplexed SNP typing of ancient DNA clarifies the origin of Andaman mtDNA haplogroups amongst south Asian tribal populations.PLoS ONE. 2006; 1: e81
- A multiplex assay with 52 single nucleotide polymorphisms for human identification.Electrophoresis. 2006; 27: 13-24
- New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0.PLoS ONE. 2009; 4: e5112
- To trust or not to trust an idiosyncratic mitochondrial data set.Am. J. Hum. Genet. 2003; 72 (author reply 1346–1349): 1341-1346
- A practical guide to mitochondrial DNA error prevention in clinical, forensic, and population genetics.Biochem. Biophys. Res. Commun. 2005; 335: 891-899
- Detecting errors in mtDNA data by phylogenetic analysis.Int. J. Legal Med. 2001; 115: 64-69
- The fingerprint of phantom mutations in mitochondrial DNA data.Am. J. Hum. Genet. 2002; 71: 1150-1160
- Analysis of body fluid mixtures by mtDNA sequencing: an inter-laboratory study of the GEP-ISFG working group.Forensic Sci. Int. 2007; 168: 42-56
- 2006 GEP-ISFG Q1 collaborative exercise on mtDNA. Reflections about interpretation, artefacts, and DNA mixtures.Forensic Sci. Int. Genet. 2008; 2: 126-133
- Pseudo-mitochondrial genome haunts disease studies.J. Med. Genet. 2008; 45: 769-772
Article info
Publication history
Published online: May 21, 2009
Accepted:
April 14,
2009
Received in revised form:
March 20,
2009
Received:
December 26,
2008
Identification
Copyright
© 2009 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.
