Abstract
Mitochondrial DNA (mtDNA) U/K and J/T are sister haplogroups within the superhaplogroup
R. They are both common in Europe, with a combined overall frequency similar to the
one reported for H, the most common European haplogroup (40–50%). In this study, we
selected 159 Italian subjects, already ascribed to U/K and J/T by RFLP typing, and
assigned each mtDNA to specific clades/subclades by investigating at least one diagnostic
coding region SNP. For each sister haplogroup, one multiplex PCR and one SNaPshot
minisequencing reaction were set up targeting 16 U/K and 7 J/T coding region SNPs.
Each mtDNA sample was clearly assigned to a specific subclade, which could be further
subdivided into several minor sub-branches according to peculiar HVS I/II motifs.
Such a molecular dissection of haplogroups U/K and J/T could be extremely useful to
reduce the overall analysis time and labor intensive sequencing procedures in high
volume forensic casework, for example when it is important to rapidly exclude samples
in order to restrict the number of suspects.
Keywords
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References
- Forensic mitochondrial DNA analysis of 116 casework skeletal samples.J. Forensic Sci. 2007; 52: 557-561
- Phylogeographic investigations: the role of trees in forensic genetics.Forensic Sci. Int. 2007; 168: 1-13
- MtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region.Am. J. Hum. Genet. 1994; 55: 760-776
- A practical guide to mitochondrial DNA error prevention in clinical, forensic, and population genetics.Biochem. Biophys. Res. Commun. 2005; 335: 891-899
- Generating population data for the EMPOP database—an overview of the mtDNA sequencing and data evaluation processes considering 273 Austrian control region sequences as example.Forensic Sci. Int. 2007; 166: 164-175
- A call for mtDNA data quality control in forensic science.Forensic Sci. Int. 2004; 141: 1-6
- Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians.Int. J. Legal Med. 2004; 118: 137-146
- Subtyping mtDNA haplogroup H by SNaPshot minisequencing and its application in forensic individual identification.Int. J. Legal Med. 2006; 120: 151-156
- Dissection of mitochondrial superhaplogroup H using coding region SNPs.Electrophoresis. 2006; 27: 2541-2550
- Mitochondrial DNA variation of modern Tuscans supports the near eastern origin of Etruscans.Am. J. Hum. Genet. 2007; 80: 759-768
- Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups.Am. J. Hum. Genet. 2002; 70: 1152-1171
- Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia.Am. J. Hum. Genet. 2004; 75: 966-978
- Italian mitochondrial DNA database: results of a collaborative exercise and proficiency testing.Int. J. Legal Med. 2008; 122: 199-204
- Saami and Berbers—an unexpected mitochondrial DNA link.Am. J. Hum. Genet. 2005; 76: 883-886
- The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event.Am. J. Hum. Genet. 2006; 78: 487-497
- Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.Am. J. Hum. Genet. 2006; 78: 564-574
- The mitochondrial lineage U8a reveals a Paleolithic settlement in the Basque country.BMC Genomics. 2006; 7: 124
- Reconstruction of patrilineages and matrilineages of Samaritans and other Israeli populations from Y-chromosome and mitochondrial DNA sequence variation.Hum. Mutat. 2004; 24: 248-260
- AutoDimer: a screening tool for primer-dimer and hairpin structures.Biotechniques. 2004; 37: 226-231
- The EDNAP mitochondrial DNA population database (EMPOP) collaborative exercises: organisation, results and perspectives.Forensic Sci. Int. 2004; 139: 215-226
- Forensic mass screening using mtDNA.Int. J. Legal Med. 2006; 120: 372-376
Article info
Publication history
Published online: May 08, 2009
Accepted:
April 2,
2009
Received in revised form:
March 23,
2009
Received:
November 7,
2008
Identification
Copyright
© 2009 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.
