In silico and in vitro comparative analysis to select, validate and test SNPs for human identification
Autor: | Omero Ricci, Giuseppe Novelli, Emiliano Giardina, Aldo Spinella, Luciano Gabriele, Irene M. Predazzi, Luca Sineo, Ilenia Pietrangeli, Paola Asili, Patrizio Marsala, Claudia Martone, Claudio Pipolo, Gianluca Solla |
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Přispěvatelé: | Giardina, E., Pietrangeli, I., Martone, C., Asili, P., Predazzi, I., Marsala, P., Gabriele, L., Pipolo, C., Ricci, O., Sola, G., Sineo, L., Spinella, A., Novelli, G. |
Rok vydání: | 2007 |
Předmět: |
Asia
lcsh:QH426-470 lcsh:Biotechnology In silico Polymorphism Single Nucleotide Heterozygote Detection Gene Frequency Humans Africa Europe Computational Biology Sequence Analysis DNA Forensic Anthropology Chromosome Mapping Single-nucleotide polymorphism Biology Genome lcsh:TP248.13-248.65 Genetics Polymorphism Allele frequency Selection (genetic algorithm) Genetic Carrier Screening Single Nucleotide DNA Human genetics lcsh:Genetics Settore MED/03 - Genetica Medica SNPs HUMAN IDENTIFICATION comparative analysis Human genome DNA microarray Sequence Analysis Biotechnology Research Article |
Zdroj: | BMC Genomics BMC Genomics, Vol 8, Iss 1, p 457 (2007) |
ISSN: | 1471-2164 |
Popis: | Background The recent advances in human genetics have recently provided new insights into phenotypic variation and genome variability. Current forensic DNA techniques involve the search for genetic similarities and differences between biological samples. Consequently the selection of ideal genomic biomarkers for human identification is crucial in order to ensure the highest stability and reproducibility of results. Results In the present study, we selected and validated 24 SNPs which are useful in human identification in 1,040 unrelated samples originating from three different populations (Italian, Benin Gulf and Mongolian). A Rigorous in silico selection of these markers provided a list of SNPs with very constant frequencies across the populations tested as demonstrated by the Fst values. Furthermore, these SNPs also showed a high specificity for the human genome (only 5 SNPs gave positive results when amplified in non-human DNA). Conclusion Comparison between in silico and in vitro analysis showed that current SNPs databases can efficiently improve and facilitate the selection of markers because most of the analyses performed (Fst, r2, heterozigosity) in more than 1,000 samples confirmed available population data. |
Databáze: | OpenAIRE |
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