Dataset Information

The GHEP-EMPOP collaboration on mtDNA population data--A new resource for forensic casework.

ABSTRACT: Mitochondrial DNA (mtDNA) population data for forensic purposes are still scarce for some populations, which may limit the evaluation of forensic evidence especially when the rarity of a haplotype needs to be determined in a database search. In order to improve the collection of mtDNA lineages from the Iberian and South American subcontinents, we here report the results of a collaborative study involving nine laboratories from the Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) and EMPOP. The individual laboratories contributed population data that were generated throughout the past 10 years, but in the majority of cases have not been made available to the scientific community. A total of 1019 haplotypes from Iberia (Basque Country, 2 general Spanish populations, 2 North and 1 Central Portugal populations), and Latin America (3 populations from São Paulo) were collected, reviewed and harmonized according to defined EMPOP criteria. The majority of data ambiguities that were found during the reviewing process (41 in total) were transcription errors confirming that the documentation process is still the most error-prone stage in reporting mtDNA population data, especially when performed manually. This GHEP-EMPOP collaboration has significantly improved the quality of the individual mtDNA datasets and adds mtDNA population data as valuable resource to the EMPOP database (www.empop.org).

SUBMITTER: Prieto L

PROVIDER: S-EPMC3065011 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature

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The GHEP-EMPOP collaboration on mtDNA population data--A new resource for forensic casework.

Prieto L L Zimmermann B B Goios A A Rodriguez-Monge A A Paneto G G GG Alves C C Alves C C Alonso A A Fridman C C Cardoso S S Lima G G Anjos M J MJ Whittle M R MR Montesino M M Cicarelli R M B RM Rocha A M AM Albarrán C C de Pancorbo M M MM Pinheiro M F MF Carvalho M M Sumita D R DR Parson W W

Forensic science international. Genetics 20101113 2

Mitochondrial DNA (mtDNA) population data for forensic purposes are still scarce for some populations, which may limit the evaluation of forensic evidence especially when the rarity of a haplotype needs to be determined in a database search. In order to improve the collection of mtDNA lineages from the Iberian and South American subcontinents, we here report the results of a collaborative study involving nine laboratories from the Spanish and Portuguese Speaking Working Group of the Internationa ...[more]

PMID: 21075696

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Project description:BACKGROUND: WGA (Whole Genome Amplification) in forensic genetics can eliminate the technical limitations arising from low amounts of genomic DNA (gDNA). However, it has not been used to date because any amplification bias generated may complicate the interpretation of results. Our aim in this paper was to assess the applicability of MDA to forensic SNP genotyping by performing a comparative analysis of genomic and amplified DNA samples. A 26-SNPs TaqMan panel specifically designed for low copy number (LCN) and/or severely degraded genomic DNA was typed on 100 genomic as well as amplified DNA samples. RESULTS: Aliquots containing 1, 0.1 and 0.01 ng each of 100 DNA samples were typed for a 26-SNPs panel. Similar aliquots of the same DNA samples underwent multiple displacement amplification (MDA) before being typed for the same panel. Genomic DNA samples showed 0% PCR failure rate for all three dilutions, whilst the PCR failure rate of the amplified DNA samples was 0% for the 1 ng and 0.1 ng dilutions and 0.077% for the 0.01 ng dilution. The genotyping results of both the amplified and genomic DNA samples were also compared with reference genotypes of the same samples obtained by direct sequencing. The genomic DNA samples showed genotype concordance rates of 100% for all three dilutions while the concordance rates of the amplified DNA samples were 100% for the 1 ng and 0.1 ng dilutions and 99.923% for the 0.01 ng dilution. Moreover, ten artificially-degraded DNA samples, which gave no results when analyzed by current forensic methods, were also amplified by MDA and genotyped with 100% concordance. CONCLUSION: We investigated the suitability of MDA material for forensic SNP typing. Comparative analysis of amplified and genomic DNA samples showed that a large number of SNPs could be accurately typed starting from just 0.01 ng of template. We found that the MDA genotyping call and accuracy rates were only slightly lower than those for genomic DNA. Indeed, when 10 pg of input DNA was used in MDA, we obtained 99.923% concordance, indicating a genotyping error rate of 1/1299 (7.7 x 10(-4)). This is quite similar to the genotyping error rate of STRs used in current forensic analysis. Such efficiency and accuracy of SNP typing of amplified DNA suggest that MDA can also generate large amounts of genome-equivalent DNA from a minimal amount of input DNA. These results show for the first time that MDA material is suitable for SNP-based forensic protocols and in general when samples fail to give interpretable STR results.

Project description:BackgroundNational health surveys linked to vital statistics and health care information provide a growing source of individual-level population health data. Pooling linked surveys across jurisdictions would create comprehensive datasets that are larger than most existing cohort studies, and that have a unique international and population perspective. This paper's objectives are to examine the feasibility of pooling linked population health surveys from three countries, facilitate the examination of health behaviours, and present useful information to assist in the planning of international population health surveillance and research studies.Data and methodsThe design, methodologies and content of the Canadian Community Health Survey (2003 to 2008), the United States National Health Interview Survey (2000, 2005) and the Scottish Health Survey (SHeS) (2003, 2008 to 2010) were examined for comparability and consistency. The feasibility of creating common variables for measuring smoking, alcohol consumption, physical activity and diet was assessed. Sample size and estimated mortality events were collected.ResultsThe surveys have comparable purposes, designs, sampling and administration methodologies, target populations, exclusions, and content. Similar health behaviour questions allow for comparable variables to be created across the surveys. However, the SHeS uses a more detailed risk factor evaluation for alcohol consumption and diet data. Therefore, comparisons of alcohol consumption and diet data between the SHeS and the other two surveys should be performed with caution. Pooling these linked surveys would create a dataset with over 350,000 participants, 28,424 deaths and over 2.4 million person-years of follow-up.DiscussionPooling linked national population health surveys could improve population health research and surveillance. Innovative methodologies must be used to account for survey dissimilarities, and further discussion is needed on how to best access and analyze data across jurisdictions.

Dataset Information

The GHEP-EMPOP collaboration on mtDNA population data--A new resource for forensic casework.

Publications

The GHEP-EMPOP collaboration on mtDNA population data--A new resource for forensic casework.

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