19 results on '"Aler, M."'
Search Results
2. A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations
- Author
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Pereira, R., Alves, C., Aler, M., Amorim, A., Arévalo, C., Betancor, E., Braganholi, D., Bravo, M.L., Brito, P., Builes, J.J., Burgos, G., Carvalho, E.F., Castillo, A., Catanesi, C.I., Cicarelli, R.M.B., Coufalova, P., Dario, P., D’Amato, M.E., Davison, S., Ferragut, J., Fondevila, M, Furfuro, S., García, O., Gaviria, A., Gomes, I., González, E., Gonzalez-Liñan, A., Gross, T.E., Hernández, A., Huang, Q., Jiménez, S., Jobim, L.F., López-Parra, A.M., Marino, M., Marques, S., Martínez-Cortés, G., Masciovecchio, V., Parra, D., Penacino, G., Pinheiro, M.F., Porto, M.J., Posada, Y., Restrepo, C., Ribeiro, T., Rubio, L., Sala, A., Santurtún, A., Solís, L.S., Souto, L., Streitemberger, E., Torres, A., Vilela-Lamego, C., Yunis, J.J., Yurrebaso, I., and Gusmão, L.
- Published
- 2018
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3. GHEP-ISFG collaborative exercise on mixture profiles of autosomal STRs (GHEP-MIX01, GHEP-MIX02 and GHEP-MIX03): Results and evaluation
- Author
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Crespillo, M., Barrio, P.A., Luque, J.A., Alves, C., Aler, M., Alessandrini, F., Andrade, L., Barretto, R.M., Bofarull, A., Costa, S., García, M.A., García, O., Gaviria, A., Gladys, A., Gorostiza, A., Hernández, A., Piñero, M. Herrera, Hombreiro, L., Ibarra, A.A., Jiménez, M.J., Luque, G.M., Madero, P., Martínez-Jarreta, B., Masciovecchio, M.V., Modesti, N.M., Moreno, F., Pagano, S., Pedrosa, S., Plaza, G., Prat, E., Puente, J., Rendo, F., Ribeiro, T., Sala, A., Santamaría, E., Saragoni, V.G., and Whittle, M.R.
- Published
- 2014
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4. Euroforgen-NoE collaborative exercise on LRmix to demonstrate standardization of the interpretation of complex DNA profiles
- Author
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Prieto, L., Haned, H., Mosquera, A., Crespillo, M., Alemañ, M., Aler, M., Álvarez, F., Baeza-Richer, C., Dominguez, A., Doutremepuich, C., Farfán, M.J., Fenger-Grøn, M., García-Ganivet, J.M., González-Moya, E., Hombreiro, L., Lareu, M.V., Martínez-Jarreta, B., Merigioli, S., Milans del Bosch, P., Morling, N., Muñoz-Nieto, M., Ortega-González, E., Pedrosa, S., Pérez, R., Solís, C., Yurrebaso, I., and Gill, P.
- Published
- 2014
- Full Text
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5. GHEP-ISFG proficiency test 2011: Paper challenge on evaluation of mitochondrial DNA results
- Author
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Prieto, L., Alves, C., Zimmermann, B., Tagliabracci, A., Prieto, V., Montesino, M., Whittle, M.R., Anjos, M.J., Cardoso, S., Heinrichs, B., Hernandez, A., López-Parra, A.M., Sala, A., Saragoni, V.G., Burgos, G., Marino, M., Paredes, M., Mora-Torres, C.A., Angulo, R., Chemale, G., Vullo, C., Sánchez-Simón, M., Comas, D., Puente, J., López-Cubría, C.M., Modesti, N., Aler, M., Merigioli, S., Betancor, E., Pedrosa, S., Plaza, G., Masciovecchio, M.V., Schneider, P.M., and Parson, W.
- Published
- 2013
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6. Population study of eight novel Y-chromosome STRs (DYS460, DYS461, GATA-A10, GATA-C4, GATA-H4, DYS434, DYS437, DYS439) in a southeast Iberian population: looking for highly informative Y-chromosome haplotypes
- Author
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Aler, M., Salas, A., Murcia, E., Gisbert-Grifo, M., and Carracedo, A.
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- 2003
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7. HLA DQA1 and D1S80 in the Population of Valencia (Spain)
- Author
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Aler, M., Lareu, M. V., Verdú, F., Pestoni, C., Gisbert, M. S., Carracedo, Angel, editor, Brinkmann, Bernd, editor, and Bär, Walter, editor
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- 1996
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8. HLA DQA1 and D1S80 in the Population of Valencia (Spain)
- Author
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Aler, M., primary, Lareu, M. V., additional, Verdú, F., additional, Pestoni, C., additional, and Gisbert, M. S., additional
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- 1996
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9. Euroforgen-NoE collaborative exercise on LRmix to demonstrate standardization of the interpretation of complex DNA profiles
- Author
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Prieto, L, Haned, H, Mosquera, A, Crespillo, M, Alemañ, M, Aler, M, Alvarez, F, Baeza-Richer, C, Dominguez, A, Doutremepuich, C, Farfán, M J, Fenger-Grøn, Martin, García-Ganivet, J M, González-Moya, E, Hombreiro, L, Lareu, M V, Martínez-Jarreta, B, Merigioli, S, Milans Del Bosch, P, Morling, N, Muñoz-Nieto, M, Ortega-González, E, Pedrosa, S, Pérez, R, Solís, C, Yurrebaso, I, Gill, P, Prieto, L, Haned, H, Mosquera, A, Crespillo, M, Alemañ, M, Aler, M, Alvarez, F, Baeza-Richer, C, Dominguez, A, Doutremepuich, C, Farfán, M J, Fenger-Grøn, Martin, García-Ganivet, J M, González-Moya, E, Hombreiro, L, Lareu, M V, Martínez-Jarreta, B, Merigioli, S, Milans Del Bosch, P, Morling, N, Muñoz-Nieto, M, Ortega-González, E, Pedrosa, S, Pérez, R, Solís, C, Yurrebaso, I, and Gill, P
- Abstract
There has been very little work published on the variation of reporting practices of mixtures between laboratories, but it has been previously demonstrated that there is little consistency. This is because there is no current uniformity of practice, so different laboratories will operate using different rules. The interpretation of mixtures is not solely a matter of using some software to provide ‘an answer’. An assessment of a case will usually begin with a consideration of the circumstances of a crime. Assumptions made about the numbers of contributors follow from an examination of the electropherogram(s) – and these may differ between the prosecution and the defence hypotheses. There may be a necessity to evaluate several sets of hypotheses for any given case if the circumstances are uncertain. Once the hypotheses are formulated, the mathematical analysis is complex and can only be accomplished by the use of specialist software. In order to obtain meaningful results, it is essential that scientists are trained, not only in the use of the software, but also in the methodology to understand the likelihood ratio concept that is used. The Euroforgen-NoE initiative has developed a training course that utilizes the LRmix program to carry out the calculations. This software encompasses the recommendations of the ISFG DNA commissions on mixture interpretation and is able to interpret samples that may come from two or more contributors and may also be partial profiles. Recently, eighteen different laboratories were trained in the methodology. Afterwards they were asked to independently analyze two different cases with partial mixture DNA evidence and to write a statement court-report. We show that by introducing a structured training programme, it is possible to demonstrate, for the first time, that a high degree of standardization, leading to uniformity of results can be achieved by participating laboratories., There has been very little work published on the variation of reporting practices of mixtures between laboratories, but it has been previously demonstrated that there is little consistency. This is because there is no current uniformity of practice, so different laboratories will operate using different rules. The interpretation of mixtures is not solely a matter of using some software to provide 'an answer'. An assessment of a case will usually begin with a consideration of the circumstances of a crime. Assumptions made about the numbers of contributors follow from an examination of the electropherogram(s)--and these may differ between the prosecution and the defence hypotheses. There may be a necessity to evaluate several sets of hypotheses for any given case if the circumstances are uncertain. Once the hypotheses are formulated, the mathematical analysis is complex and can only be accomplished by the use of specialist software. In order to obtain meaningful results, it is essential that scientists are trained, not only in the use of the software, but also in the methodology to understand the likelihood ratio concept that is used. The Euroforgen-NoE initiative has developed a training course that utilizes the LRmix program to carry out the calculations. This software encompasses the recommendations of the ISFG DNA commissions on mixture interpretation and is able to interpret samples that may come from two or more contributors and may also be partial profiles. Recently, eighteen different laboratories were trained in the methodology. Afterwards they were asked to independently analyze two different cases with partial mixture DNA evidence and to write a statement court-report. We show that by introducing a structured training programme, it is possible to demonstrate, for the first time, that a high degree of standardization, leading to uniformity of results can be achieved by participating laboratories.
- Published
- 2014
10. Factores que afectan al análisis biológico de las muestras de agresiones sexuales
- Author
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Torres, Y., Aler, M., Plata, A., Domínguez, A., Sanz, P., and Gisbert, M.
- Subjects
Bases de Datos en agresiones sexuales ,sexual assault casework ,prueba de ADN ,drug facilitated sexual assault ,DNA databases in sexual crimes ,casuística agresiones sexuales ,técnicas preliminares ,sumisión química ,DNA technology ,preliminary techniques - Abstract
El concepto multidisciplinar de Ciencias Forenses se ha consolidado en los últimos años integrando un amplio espectro de profesionales de distintas disciplinas que ha abierto nuevas áreas de trabajo, en la mayoría de las cuales la interpretación del resultado se basa en la comparación con un material de referencia. Este trabajo pretende exponer brevemente una revisión de la casuística de Delitos Contra la Libertad Sexual (DCLS) estudiados en los laboratorios de Biología Forense y evaluar el rendimiento de la prueba de ADN a lo largo de los años en dos aspectos: uno en las situaciones inherentes a la metodología y otro en lo que respecta al cotejo de los vestigios analizados con las muestras de referencia de los implicados. En este segundo supuesto, el no disponer de una Base de Datos Nacional de Perfiles de ADN parece ser una de las razones en la no resolución de algunos de estos casos. Desde la denuncia del delito perpetrado hasta la obtención del ansiado perfil de ADN susceptible de cotejo intervienen múltiples factores, algunos de los cuales podrían ser controlados-consensuados desde instituciones como los Institutos de Medicina Legal (IMLs) de quienes depende la toma, distribución y envío de las muestras y otros deberían ser previstos-consensuados en los propios laboratorios de análisis. The multidisciplinary concept of Forensic Sciences has been consolidated in the last years integrating a wide spectrum of professionals of different disciplines. New areas of work have been opened, in most of them the result should be interpreted by the comparison with reference samples. This work tries to briefly expose a review of the laboratory work in sexual assaults casework and to evaluate the efficiency of the applied methodology in two aspects, one in reference to the techniques itself and another one which concerns the comparison between the specimens analysed and the reference samples of suspects. The absence in Spain of a National DNA Database seems to be one of the reasons in the non resolution of some of these cases. But many other factors, from the initial report of the crime denunciation to the achievement of the DNA profiles to be compared must be considered. We have to reach a consensus in order to control the whole process from the forensic examinations carried out in the Institutes of Legal Medicine to the interpretation of the findings in the forensic laboratory.
- Published
- 2007
11. Genetic data of 10 X-STRs in a Spanish population sample
- Author
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Aler, M., Sánchez-Diz, P., Gomes, I., Gisbert, M., Carracedo, A., Amorim, A., and Gusmão, L.
- Published
- 2007
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12. Factores que afectan al análisis biológico de las muestras de agresiones sexuales
- Author
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Torres, Y., primary, Aler, M., additional, Plata, A., additional, Domínguez, A., additional, Sanz, P., additional, and Gisbert, M., additional
- Published
- 2007
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13. Y-chromosome STR haplotypes from a Western Mediterranean population sample
- Author
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Aler, M., Salas, A., Sanchez-Diz, P., Murcia, E., Carracedo, A., and Gisbert, M.
- Published
- 2001
- Full Text
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14. Data for nine autosomal STRs markers from Valencia (East Mediterranean coast of the Iberian Peninsula)
- Author
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Aler, M., Salas, A., Gisbert, M., and Carracedo, A.
- Published
- 2001
- Full Text
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15. Second GHEP-ISFG exercise for DVI: "DNA-led" victims' identification in a simulated air crash.
- Author
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Vullo CM, Catelli L, Ibarra Rodriguez AA, Papaioannou A, Merino JCÁ, Lopez-Parra AM, Gaviria A, Baeza-Richer C, Romanini C, González-Moya E, Casals F, Calafell F, Berardi G, Iannacone GC, Vicuña Giraldo GC, Zorba GK, Boschi I, Olarte JV, Ruiz Gomez JE, Acierno JP, Soto ML, Miranda MV, García King MD, Marrucci MA, Porto MJ, Piñero MH, Aler M, Stephenson Ojea MM, Navarrete SC, Toscanini U, Saragoni VG, Bozzo W, Posada Posada YC, Bajunovic Z, Solla LP, and Parsons T
- Subjects
- Accidents, Aviation, DNA, Mitochondrial, Haplotypes, Humans, Microsatellite Repeats, Pedigree, DNA Fingerprinting methods, Disaster Victims, Forensic Genetics methods, Simulation Training
- Abstract
The Spanish and Portuguese-Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) has organized a second collaborative exercise on a simulated case of Disaster Victim Identification (DVI), with the participation of eighteen laboratories. The exercise focused on the analysis of a simulated plane crash case of medium-size resulting in 66 victims with varying degrees of fragmentation of the bodies (with commingled remains). As an additional difficulty, this second exercise included 21 related victims belonging to 6 families among the 66 missings to be identified. A total number of 228 post-mortem samples were represented with aSTR and mtDNA profiles, with a proportion of partial aSTR profiles simulating charred remains. To perform the exercise, participants were provided with aSTR and mtDNA data of 51 reference pedigrees -some of which deficient-including 128 donors for identification purposes. The exercise consisted firstly in the comparison of the post-mortem genetic profiles in order to re-associate fragmented remains to the same individual and secondly in the identification of the re-associated remains by comparing aSTR and mtDNA profiles with reference pedigrees using pre-established thresholds to report a positive identification. Regarding the results of the post-mortem samples re-associations, only a small number of discrepancies among participants were detected, all of which were from just a few labs. However, in the identification process by kinship analysis with family references, there were more discrepancies in comparison to the correct results. The identification results of single victims yielded fewer problems than the identification of multiple related victims within the same family groups. Several reasons for the discrepant results were detected: a) the identity/non-identity hypotheses were sometimes wrongly expressed in the likelihood ratio calculations, b) some laboratories failed to use all family references to report the DNA match, c) In families with several related victims, some laboratories firstly identified some victims and then unnecessarily used their genetic information to identify the remaining victims within the family, d) some laboratories did not correctly use "prior odds" values for the Bayesian treatment of the episode for both post-mortem/post-mortem re-associations as well as the ante-mortem/post-mortem comparisons to evaluate the probability of identity. For some of the above reasons, certain laboratories failed to identify some victims. This simulated "DNA-led" identification exercise may help forensic genetic laboratories to gain experience and expertize for DVI or MPI in using genetic data and comparing their own results with the ones in this collaborative exercise., (Copyright © 2021 Elsevier B.V. All rights reserved.)
- Published
- 2021
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16. Species identification in forensic samples using the SPInDel approach: A GHEP-ISFG inter-laboratory collaborative exercise.
- Author
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Alves C, Pereira R, Prieto L, Aler M, Amaral CRL, Arévalo C, Berardi G, Di Rocco F, Caputo M, Carmona CH, Catelli L, Costa HA, Coufalova P, Furfuro S, García Ó, Gaviria A, Goios A, Gómez JJB, Hernández A, Hernández EDCB, Miranda L, Parra D, Pedrosa S, Porto MJA, Rebelo ML, Spirito M, Torres MDCV, Amorim A, and Pereira F
- Subjects
- Animals, Cooperative Behavior, Female, Humans, Laboratories, Male, Electrophoresis, Capillary, Multiplex Polymerase Chain Reaction, RNA, Ribosomal genetics, Species Specificity
- Abstract
DNA is a powerful tool available for forensic investigations requiring identification of species. However, it is necessary to develop and validate methods able to produce results in degraded and or low quality DNA samples with the high standards obligatory in forensic research. Here, we describe a voluntary collaborative exercise to test the recently developed Species Identification by Insertions/Deletions (SPInDel) method. The SPInDel kit allows the identification of species by the generation of numeric profiles combining the lengths of six mitochondrial ribosomal RNA (rRNA) gene regions amplified in a single reaction followed by capillary electrophoresis. The exercise was organized during 2014 by a Working Commission of the Spanish and Portuguese-Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG), created in 2013. The 24 participating laboratories from 10 countries were asked to identify the species in 11 DNA samples from previous GHEP-ISFG proficiency tests using a SPInDel primer mix and control samples of the 10 target species. A computer software was also provided to the participants to assist the analyses of the results. All samples were correctly identified by 22 of the 24 laboratories, including samples with low amounts of DNA (hair shafts) and mixtures of saliva and blood. Correct species identifications were obtained in 238 of the 241 (98.8%) reported SPInDel profiles. Two laboratories were responsible for the three cases of misclassifications. The SPInDel was efficient in the identification of species in mixtures considering that only a single laboratory failed to detect a mixture in one sample. This result suggests that SPInDel is a valid method for mixture analyses without the need for DNA sequencing, with the advantage of identifying more than one species in a single reaction. The low frequency of wrong (5.0%) and missing (2.1%) alleles did not interfere with the correct species identification, which demonstrated the advantage of using a method based on the analysis of multiple loci. Overall, the SPInDel method was easily implemented by laboratories using different genotyping platforms, the interpretation of results was straightforward and the SPInDel software was used without any problems. The results of this collaborative exercise indicate that the SPInDel method can be applied successfully in forensic casework investigations., (Copyright © 2017 Elsevier B.V. All rights reserved.)
- Published
- 2017
- Full Text
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17. Formulation and communication of evaluative forensic science expert opinion-A GHEP-ISFG contribution to the establishment of standards.
- Author
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Amorim A, Crespillo M, Luque JA, Prieto L, Garcia O, Gusmão L, Aler M, Barrio PA, Saragoni VG, and Pinto N
- Subjects
- Expert Testimony legislation & jurisprudence, Forensic Sciences legislation & jurisprudence, Humans, Laboratories legislation & jurisprudence, Laboratories standards, Research Report legislation & jurisprudence, Research Report standards, Expert Testimony standards, Forensic Sciences standards
- Abstract
Communicating and interpreting genetic evidence in the administration of justice is currently a matter of great concern, due to the theoretical and technical complexity of the evaluative reporting and large difference in expertise between forensic experts and law professionals. A large number of initiatives have been taken trying to bridge this gap, contributing to the education of both parties. Results however have not been very encouraging, as most of these initiatives try to cope globally with the problem, addressing simultaneously theoretical and technical approaches which are in a quite heterogeneous state of development and validation. In consequence, the extension and complexity of the resulting documents disheartens their study by professionals (both jurists and geneticists) and makes a consensus very hard to reach even among the genetic experts' community. Here we propose a 'back-to-basics', example-driven approach, in which a model report for the two most common situations faced by forensic laboratories is presented. We do hope that this strategy will provide a solid basis for a stepwise generalisation., (Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.)
- Published
- 2016
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18. The genetic legacy of religious diversity and intolerance: paternal lineages of Christians, Jews, and Muslims in the Iberian Peninsula.
- Author
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Adams SM, Bosch E, Balaresque PL, Ballereau SJ, Lee AC, Arroyo E, López-Parra AM, Aler M, Grifo MS, Brion M, Carracedo A, Lavinha J, Martínez-Jarreta B, Quintana-Murci L, Picornell A, Ramon M, Skorecki K, Behar DM, Calafell F, and Jobling MA
- Subjects
- Chromosomes, Human, Y genetics, Demography, Emigration and Immigration, Genetic Markers, Haplotypes, Humans, Male, Phylogeny, Portugal, Spain, Christianity, Ethnicity genetics, Islam, Jews, Population Groups genetics
- Abstract
Most studies of European genetic diversity have focused on large-scale variation and interpretations based on events in prehistory, but migrations and invasions in historical times could also have had profound effects on the genetic landscape. The Iberian Peninsula provides a suitable region for examination of the demographic impact of such recent events, because its complex recent history has involved the long-term residence of two very different populations with distinct geographical origins and their own particular cultural and religious characteristics-North African Muslims and Sephardic Jews. To address this issue, we analyzed Y chromosome haplotypes, which provide the necessary phylogeographic resolution, in 1140 males from the Iberian Peninsula and Balearic Islands. Admixture analysis based on binary and Y-STR haplotypes indicates a high mean proportion of ancestry from North African (10.6%) and Sephardic Jewish (19.8%) sources. Despite alternative possible sources for lineages ascribed a Sephardic Jewish origin, these proportions attest to a high level of religious conversion (whether voluntary or enforced), driven by historical episodes of social and religious intolerance, that ultimately led to the integration of descendants. In agreement with the historical record, analysis of haplotype sharing and diversity within specific haplogroups suggests that the Sephardic Jewish component is the more ancient. The geographical distribution of North African ancestry in the peninsula does not reflect the initial colonization and subsequent withdrawal and is likely to result from later enforced population movement-more marked in some regions than in others-plus the effects of genetic drift.
- Published
- 2008
- Full Text
- View/download PDF
19. Identifying genetic traces of historical expansions: Phoenician footprints in the Mediterranean.
- Author
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Zalloua PA, Platt DE, El Sibai M, Khalife J, Makhoul N, Haber M, Xue Y, Izaabel H, Bosch E, Adams SM, Arroyo E, López-Parra AM, Aler M, Picornell A, Ramon M, Jobling MA, Comas D, Bertranpetit J, Wells RS, and Tyler-Smith C
- Subjects
- Alleles, Ethnicity genetics, Gene Frequency, Geography, History, Ancient, Humans, Male, Mediterranean Sea, Polymorphism, Single Nucleotide, Chromosomes, Human, Y, Emigration and Immigration, Genetics, Population, Haplotypes, Population Dynamics
- Abstract
The Phoenicians were the dominant traders in the Mediterranean Sea two thousand to three thousand years ago and expanded from their homeland in the Levant to establish colonies and trading posts throughout the Mediterranean, but then they disappeared from history. We wished to identify their male genetic traces in modern populations. Therefore, we chose Phoenician-influenced sites on the basis of well-documented historical records and collected new Y-chromosomal data from 1330 men from six such sites, as well as comparative data from the literature. We then developed an analytical strategy to distinguish between lineages specifically associated with the Phoenicians and those spread by geographically similar but historically distinct events, such as the Neolithic, Greek, and Jewish expansions. This involved comparing historically documented Phoenician sites with neighboring non-Phoenician sites for the identification of weak but systematic signatures shared by the Phoenician sites that could not readily be explained by chance or by other expansions. From these comparisons, we found that haplogroup J2, in general, and six Y-STR haplotypes, in particular, exhibited a Phoenician signature that contributed > 6% to the modern Phoenician-influenced populations examined. Our methodology can be applied to any historically documented expansion in which contact and noncontact sites can be identified.
- Published
- 2008
- Full Text
- View/download PDF
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