Development and expansion of high-quality control region databases to improve forensic mtDNA evidence interpretation

Irwin, Jodi A.; Saunier, Jessica L.; Strouss, Katharine; Sturk, Kimberly A.; Diegoli, Toni M.; Just, Rebecca S.; Coble, Michael D.; Parson, Walther; Parsons, Thomas J.

doi:10.1016/j.fsigen.2007.01.019

Cited by 50 publications

(30 citation statements)

References 7 publications

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“…For many populations, however, large forensic mtDNA databases that cover the entire control region and adhere to strict guidelines in terms of their generation and maintenance are not available. A number of recent publications reflect largescale efforts to augment global forensic mtDNA databases with high-quality, entire control region data [1][2][3][4][5][6]. In line with these efforts, we present entire control region data from two populations: Greeks from northern Greece and Greek Cypriots.…”

Section: Introductionmentioning

confidence: 84%

Mitochondrial control region sequences from northern Greece and Greek Cypriots

et al. 2007

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Section: Introductionmentioning

confidence: 84%

Mitochondrial control region sequences from northern Greece and Greek Cypriots

et al. 2007

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“…Amplification and sequencing PCR amplification, sequencing, and evaluation of the data were performed following the strategies outlined in Brandstätter et al [22] and Irwin et al [23]. Briefly, automated PCR amplification of the full control region was prepared on the Corbett Robotics CAS-1200 robotic platform (Concorde, NSW, Australia) using the primers F15971 (TTA ACT CCA CCA TTA GCA CC) and R599 (TTG AGG AGG TAA GCT ACA TA) for amplification of the control region.…”

Section: Dna Samples and Extractionmentioning

confidence: 99%

“…Cycle sequencing was prepared using the Big Dye Terminator version 1.1 sequencing kit (Applied Biosystems) on a Tecan Genesis Robotic Workstation (Männedorf, Switzerland) utilizing the sequencing primers described in Brandstätter et al [22] and updated in Irwin et al [23]. Postsequencing cleanup of the cycle sequencing reaction was purified using the Performa V3 96-well short plate (Edge Biosystems, Gaithersburg, MD, USA) following the manufacturer's guidelines.…”

Section: Dna Samples and Extractionmentioning

confidence: 99%

Homogeneity in mitochondrial DNA control region sequences in Swedish subpopulations

et al. 2009

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In order to promote mitochondrial DNA (mtDNA) testing in Sweden we have typed 296 Swedish males, which will serve as a Swedish mtDNA frequency database. The tested males were taken from seven geographically different regions representing the contemporary Swedish population. The complete mtDNA control region was typed and the Swedish population was shown to have high haplotype diversity with a random match probability of 0.5%. Almost 47% of the tested samples belonged to haplogroup H and further haplogroup comparison with worldwide populations clustered the Swedish mtDNA data together with other European populations. AMOVA analysis of the seven Swedish subregions displayed no significant maternal substructure in Sweden (F (ST) = 0.002). Our conclusion from this study is that the typed Swedish individuals serve as good representatives for a Swedish forensic mtDNA database. Some caution should, however, be taken for individuals from the northernmost part of Sweden (provinces of Norrbotten and Lapland) due to specific demographic conditions. Furthermore, our analysis of a small sample set of a Swedish Saami population confirmed earlier findings that the Swedish Saami population is an outlier among European populations.

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“…From the standpoint of forensic mtDNA testing, capturing this information at the finest level should help reveal the magnitude and significance of any inter-population differentiation and provide a better understanding of the degree to which separate forensic reference databases may need to be maintained. For mitochondrial DNA control region typing, samples were extracted and PCR amplified and sequenced as described in [19]. Extracts were amplified for the entire control region, except in rare cases for which three overlapping amplicons were used.…”

Section: Introductionmentioning

confidence: 99%

The mtDNA composition of Uzbekistan: a microcosm of Central Asian patterns

Irwin¹,

Ikramov

Saunier³

et al. 2010

Int J Legal Med

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In order to better characterize and understand the mtDNA population genetics of Central Asia, the mtDNA control regions of over 1,500 individuals from Uzbekistan have been sequenced. Although all samples were obtained from individuals residing in Uzbekistan, individuals with direct ancestry from neighboring Central Asian countries are included. Individuals of Uzbek ancestry represent five distinct geographic regions of Uzbekistan: Fergana, Karakalpakstan, Khorezm, Qashkadarya, and Tashkent. Individuals with direct ancestry in nearby countries originate from Kazakhstan, Kyrgyzstan, Russia, Afghanistan, Turkmenistan, and Tajikistan. Our data reinforce the evidence of distinct clinal patterns that have been described among Central Asian populations with classical, mtDNA, and Y-chromosomal markers. Our data also reveal hallmarks of recent demographic events. Despite their current close geographic proximity, the populations with ancestry in neighboring countries show little sign of admixture and retain the primary mtDNA patterns of their source populations. The genetic distances and haplogroup distributions among the ethnic populations are more indicative of a broad east-west cline among their source populations than of their relatively small geographic distances from one another in Uzbekistan. Given the significant mtDNA heterogeneity detected, our results emphasize the need for heightened caution in the forensic interpretation of mtDNA data in regions as historically rich and genetically diverse as Central Asia.

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Development and expansion of high-quality control region databases to improve forensic mtDNA evidence interpretation

Cited by 50 publications

References 7 publications

Mitochondrial control region sequences from northern Greece and Greek Cypriots

Mitochondrial control region sequences from northern Greece and Greek Cypriots

Homogeneity in mitochondrial DNA control region sequences in Swedish subpopulations

The mtDNA composition of Uzbekistan: a microcosm of Central Asian patterns

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