Toward increased utility of mtDNA in forensic identifications

Just, Rebecca S.; Irwin, Jodi A.; O’Callaghan, Jennifer; Saunier, Jessica L.; Coble, Michael D.; Vallone, Peter M.; Butler, John M.; Barritt, Suzanne M.; Parsons, Thomas J.

doi:10.1016/j.forsciint.2004.09.045

Cited by 32 publications

(19 citation statements)

References 7 publications

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“…In some cases they can even quickly lead to exclusion scenarios and thus allow rapid communication with the authorities involved in the case. In addition, SNP interrogation can provide additional discrimination of otherwise identical control region sequences [16,[26][27][28]. The SNP markers selected for this study provide a very fine resolution within hg H. Two major groups (H* and H1) however still remain to be resolved by the application of appropriate sites.…”

Section: Discussionmentioning

confidence: 99%

Dissection of mitochondrial superhaplogroup H using coding region SNPs

Brandstätter

Salas²,

Niederstätter

et al. 2006

Electrophoresis

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Haplogroup H (hg H) includes about 40-50% of the West Eurasian mitochondrial DNA (mtDNA) samples investigated so far. In order to enhance discrimination within this haplogroup we selected 45 coding region SNPs that allow to ascribe samples to the main phylogenetic branches of super hg HV (that embraces hg H) and, in particular, to H sublineages with a much finer resolution than previous studies. SNP selection was carried out using the most up-to-date available literature on population and forensic genetics and extended by means of phylogenetic analysis of complete or coding region genomes (<430) and control region sequences. A meticulous inspection of the H phylogeny led us to the observation of various but uncharacterized subclades of hg H. The selected SNPs were amplified in two PCR-multiplex reactions and subsequently targeted in three single-base extension multiplex reactions. A total of 2214 West Eurasian samples were screened for hg H specific loci 2706 and 7028, of which 859 fell in hg H and were further subjected to subhaplogroup typing. We observed 35 different subhaplogroups in total, 33 of which were found at frequencies below 5%. This assay can be used as a prescreening tool in forensic casework for rapid discrimination between divergent lineages (very effective for high-volume crime cases) or as discriminatory assay, when identical hg H haplotypes were obtained by control region sequencing.

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Section: Discussionmentioning

confidence: 99%

Dissection of mitochondrial superhaplogroup H using coding region SNPs

Brandstätter

Salas²,

Niederstätter

et al. 2006

Electrophoresis

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“…Nonetheless, mtDNA has weaknesses, including the uniparental mode of inheritance and lower discrimination power that can be moderately mediated by using the whole mitochondrial genome or known surrounding single nucleotide polymorphisms (SNPs) [11],[12]. Informative SNPs have been used to help resolve problems with using mtDNA [11],[13],[14] but have not been used wholly or separately as the discriminatory factor, or on the same scale as we propose.…”

Section: Introductionmentioning

confidence: 99%

Resolving Individuals Contributing Trace Amounts of DNA to Highly Complex Mixtures Using High-Density SNP Genotyping Microarrays

Homer

Szelinger²,

Redman³

et al. 2008

PLoS Genet

1,065

912

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We use high-density single nucleotide polymorphism (SNP) genotyping microarrays to demonstrate the ability to accurately and robustly determine whether individuals are in a complex genomic DNA mixture. We first develop a theoretical framework for detecting an individual's presence within a mixture, then show, through simulations, the limits associated with our method, and finally demonstrate experimentally the identification of the presence of genomic DNA of specific individuals within a series of highly complex genomic mixtures, including mixtures where an individual contributes less than 0.1% of the total genomic DNA. These findings shift the perceived utility of SNPs for identifying individual trace contributors within a forensics mixture, and suggest future research efforts into assessing the viability of previously sub-optimal DNA sources due to sample contamination. These findings also suggest that composite statistics across cohorts, such as allele frequency or genotype counts, do not mask identity within genome-wide association studies. The implications of these findings are discussed.

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“…See Butler [4] and Budowle [12] for an extensive review of existing technologies. A small number of validated SNP assays are used in casework and these include mini-sequencing assays for mitochondrial DNA (mtDNA) [13][14][15][16], Y chromosome [17], a red hair marker assay [18] and autosomal multiplexes [19]. There has been some debate about which is the best approach [20].…”

Section: Introductionmentioning

confidence: 99%