Antonio Salas

Summary

Affiliation: Santiago de Compostela
Country: Spain

Publications

  1. ncbi request reprint Insights into Iberian population origins through the construction of highly informative Y-chromosome haplotypes using biallelic markers, STRs, and the MSY1 minisatellite
    M Brion
    Unit of Genetics, Institute of Legal Medicine, University of Santiago de Compostela, E 15782 Santiago de Compostela, Galicia, Spain
    Am J Phys Anthropol 122:147-61. 2003
  2. pmc Genetic origin, admixture, and asymmetry in maternal and paternal human lineages in Cuba
    Isabel Mendizabal
    Unitat de Biologia Evolutiva, Departament de Ciencies Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona, Spain
    BMC Evol Biol 8:213. 2008
  3. pmc Timing and deciphering mitochondrial DNA macro-haplogroup R0 variability in Central Europe and Middle East
    Anita Brandstätter
    Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria
    BMC Evol Biol 8:191. 2008
  4. ncbi request reprint Mitochondrial DNA error prophylaxis: assessing the causes of errors in the GEP'02-03 proficiency testing trial
    Antonio Salas
    Unidad de Genetica, Facultad de Medicina de la Universidad de Santiago de Compostela, Instituto de Medicina Legal, A Coruna, Galicia Spain
    Forensic Sci Int 148:191-8. 2005
  5. ncbi request reprint Shipwrecks and founder effects: divergent demographic histories reflected in Caribbean mtDNA
    Antonio Salas
    Unidad de Genetica, Instituto de Medicina Legal, Universidad de Santiago de Compostela, 15782 Santiago de Compostela, Galicia, Spain
    Am J Phys Anthropol 128:855-60. 2005
  6. ncbi request reprint A practical guide to mitochondrial DNA error prevention in clinical, forensic, and population genetics
    Antonio Salas
    Unidade de Xenetica, Instituto de Medicina Legal, Facultade de Medicina, 15782 Universidade de Santiago de Compostela, Centro Nacional de Xenotipado CeGen, Hospital Clinico Universitario, 15706 Galicia, Spain
    Biochem Biophys Res Commun 335:891-9. 2005
  7. ncbi request reprint [Studies of association in complex diseases: statistical problems related to the analysis of genetic polymorphisms]
    A Salas
    Unidade de Xenetica, Instituto de Medicina Legal, Facultad de Medicina, Universidad de Santiago de Compostela, A Coruna
    Rev Clin Esp 207:563-5. 2007
  8. pmc The African diaspora: mitochondrial DNA and the Atlantic slave trade
    Antonio Salas
    Unidad de Genética Forense, Instituto de Medicina Legal, Universidad de Santiago de Compostela, Galicia, Spain
    Am J Hum Genet 74:454-65. 2004
  9. pmc Charting the ancestry of African Americans
    Antonio Salas
    Unidade de Xenetica, Instituto de Medicina Legal, Facultad de Medicina, Universidad de Santiago de Compostela, Galicia, Spain
    Am J Hum Genet 77:676-80. 2005
  10. pmc A critical reassessment of the role of mitochondria in tumorigenesis
    Antonio Salas
    Unidade de Xenetica, Instituto de Medicina Legal, Facultade de Medicina, Universidad de Santiago de Compostela, Galicia, Spain
    PLoS Med 2:e296. 2005

Detail Information

Publications88

  1. ncbi request reprint Insights into Iberian population origins through the construction of highly informative Y-chromosome haplotypes using biallelic markers, STRs, and the MSY1 minisatellite
    M Brion
    Unit of Genetics, Institute of Legal Medicine, University of Santiago de Compostela, E 15782 Santiago de Compostela, Galicia, Spain
    Am J Phys Anthropol 122:147-61. 2003
    ..Implications of our results for the highly debated origin of Basques are also discussed...
  2. pmc Genetic origin, admixture, and asymmetry in maternal and paternal human lineages in Cuba
    Isabel Mendizabal
    Unitat de Biologia Evolutiva, Departament de Ciencies Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona, Spain
    BMC Evol Biol 8:213. 2008
    ....
  3. pmc Timing and deciphering mitochondrial DNA macro-haplogroup R0 variability in Central Europe and Middle East
    Anita Brandstätter
    Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria
    BMC Evol Biol 8:191. 2008
    ..Here we describe the phylogenetic structure and genetic variety of hg R0 in five European populations and one population from the Middle East...
  4. ncbi request reprint Mitochondrial DNA error prophylaxis: assessing the causes of errors in the GEP'02-03 proficiency testing trial
    Antonio Salas
    Unidad de Genetica, Facultad de Medicina de la Universidad de Santiago de Compostela, Instituto de Medicina Legal, A Coruna, Galicia Spain
    Forensic Sci Int 148:191-8. 2005
    ..In the present edition of the GEP-ISFG exercise we have paid special attention to the visual phylogenetic inspection for detecting common sequencing errors...
  5. ncbi request reprint Shipwrecks and founder effects: divergent demographic histories reflected in Caribbean mtDNA
    Antonio Salas
    Unidad de Genetica, Instituto de Medicina Legal, Universidad de Santiago de Compostela, 15782 Santiago de Compostela, Galicia, Spain
    Am J Phys Anthropol 128:855-60. 2005
    ....
  6. ncbi request reprint A practical guide to mitochondrial DNA error prevention in clinical, forensic, and population genetics
    Antonio Salas
    Unidade de Xenetica, Instituto de Medicina Legal, Facultade de Medicina, 15782 Universidade de Santiago de Compostela, Centro Nacional de Xenotipado CeGen, Hospital Clinico Universitario, 15706 Galicia, Spain
    Biochem Biophys Res Commun 335:891-9. 2005
    ..A fictitious case study of a European mtDNA data set (albeit composed from the literature) then demonstrates the steps one has to go through in order to assess the quality of sequencing and documentation...
  7. ncbi request reprint [Studies of association in complex diseases: statistical problems related to the analysis of genetic polymorphisms]
    A Salas
    Unidade de Xenetica, Instituto de Medicina Legal, Facultad de Medicina, Universidad de Santiago de Compostela, A Coruna
    Rev Clin Esp 207:563-5. 2007
    ..The present review deals with all these problems and provides guidelines that can help to minimize their effects...
  8. pmc The African diaspora: mitochondrial DNA and the Atlantic slave trade
    Antonio Salas
    Unidad de Genética Forense, Instituto de Medicina Legal, Universidad de Santiago de Compostela, Galicia, Spain
    Am J Hum Genet 74:454-65. 2004
    ..However, they also indicate that, at least for the moment, considerable caution is warranted when assessing claims to be able to trace the ancestry of particular lineages to a particular locality within modern-day Africa...
  9. pmc Charting the ancestry of African Americans
    Antonio Salas
    Unidade de Xenetica, Instituto de Medicina Legal, Facultad de Medicina, Universidad de Santiago de Compostela, Galicia, Spain
    Am J Hum Genet 77:676-80. 2005
    ..We show that >55% of the U.S. lineages have a West African ancestry, with <41% coming from west-central or southwestern Africa. These results are remarkably similar to the most up-to-date analyses of the historical record...
  10. pmc A critical reassessment of the role of mitochondria in tumorigenesis
    Antonio Salas
    Unidade de Xenetica, Instituto de Medicina Legal, Facultade de Medicina, Universidad de Santiago de Compostela, Galicia, Spain
    PLoS Med 2:e296. 2005
    ....
  11. doi request reprint The mtDNA ancestry of admixed Colombian populations
    A Salas
    Unidade de Xenetica, Instituto de Medicina Legal, Facultade de Medicina, Universidade de Santiago de Compostela, 15782 Galicia, Spain
    Am J Hum Biol 20:584-91. 2008
    ....
  12. doi request reprint Gender bias in the multiethnic genetic composition of central Argentina
    A Salas
    Unidade de Xenetica, Instituto de Medicina Legal, Facultad de Medicina, Universidad de Santiago de Compostela, 15782, Galicia, Spain
    J Hum Genet 53:662-74. 2008
    ....
  13. ncbi request reprint Phylogeographic investigations: the role of trees in forensic genetics
    A Salas
    Unidad de Genetica, Instituto de Medicina Legal, Facultad de Medicina, Universidad de Santiago de Compostela, 15782 Galicia, Spain
    Forensic Sci Int 168:1-13. 2007
    ..Finally, we show the usefulness of coding-region variation in a forensic context...
  14. pmc The making of the African mtDNA landscape
    Antonio Salas
    Unidad de Genética Forense, Universidad de Santiago de Compostela, Santiago de Compostela, Galicia, Spain
    Am J Hum Genet 71:1082-111. 2002
    ....
  15. pmc Mitochondrial echoes of first settlement and genetic continuity in El Salvador
    Antonio Salas
    Unidade de Xenetica, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Medicina Legal, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain
    PLoS ONE 4:e6882. 2009
    ..In order to shed light on the role of Mesoamerica in the peopling of the New World, the present study focuses on the analysis of the mtDNA variation in a population sample from El Salvador...
  16. pmc Ancestry analysis in the 11-M Madrid bomb attack investigation
    Christopher Phillips
    Forensic Genetics Unit, Institute of Legal Medicine, University of Santiago de Compostela, Santiago de Compostela, Galicia, Spain
    PLoS ONE 4:e6583. 2009
    ..The results achieved illustrate the benefit of adding specialized marker sets to provide enhanced scope and power to an already highly effective system of DNA analysis for forensic identification...
  17. pmc High mitochondrial DNA stability in B-cell chronic lymphocytic leukemia
    Maria Cerezo
    Unidade de Xenetica, Instituto de Medicina Legal, and Departamento de Anatomía Patolóxica y Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, Santiago de Compostela, Galicia, Spain
    PLoS ONE 4:e7902. 2009
    ..Chronic Lymphocytic Leukemia (CLL) leads to progressive accumulation of lymphocytes in the blood, bone marrow, and lymphatic tissues. Previous findings have suggested that the mtDNA could play an important role in CLL...
  18. pmc Uniparental markers of contemporary Italian population reveals details on its pre-Roman heritage
    Francesca Brisighelli
    Unidade de Xenetica, Facultade de Medicina, Instituto de Medicina Legal, Universidade de Santiago de Compostela, Galicia, Spain
    PLoS ONE 7:e50794. 2012
    ..Although Italy has been a favorite subject for numerous population genetic studies, genetic patterns have never been analyzed comprehensively, including uniparental and autosomal markers throughout the country...
  19. pmc The Etruscan timeline: a recent Anatolian connection
    Francesca Brisighelli
    Unidade de Xenetica, Facultade de Medicina, Instituto de Medicina Legal, Universidade de Santiago de Compostela, Galicia, Spain
    Eur J Hum Genet 17:693-6. 2009
    ..1+/-0.1 to 2.3+/-0.4 kya B.P...
  20. pmc New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0
    Vanesa Alvarez-Iglesias
    Unidade de Xenetica, Instituto de Medicina Legal and Departamento de Anatomía Patolóxica y Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain
    PLoS ONE 4:e5112. 2009
    ..R0 sub-lineages are badly defined in the control region and therefore, the analysis of diagnostic coding region polymorphisms is needed in order to gain resolution in population and medical studies...
  21. pmc Reconstructing ancient mitochondrial DNA links between Africa and Europe
    Maria Cerezo
    Unidade de Xenetica, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Ciencias Forenses, Facultade de Medicina, Universidad de Santiago de Compostela, Santiago de Compostela, Galicia, Spain
    Genome Res 22:821-6. 2012
    ..However, the remaining 35% of L mtDNAs form European-specific subclades, revealing that there was gene flow from sub-Saharan Africa toward Europe as early as 11,000 yr ago...
  22. doi request reprint Applications of MALDI-TOF MS to large-scale human mtDNA population-based studies
    Maria Cerezo
    Unidade de Xenetica, Departamento de Anatomía Patolóxica e Ciencias Forenses, Instituto de Medicina Legal, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain
    Electrophoresis 30:3665-73. 2009
    ....
  23. ncbi request reprint Microsatellite autosomal genotyping data in four indigenous populations from El Salvador
    José Lovo-Gómez
    Unidad de Genetica, Instituto de Medicina Legal, Facultad de Medicina, Universidad de Santiago de Compostela, 15782, Spain
    Forensic Sci Int 170:86-91. 2007
    ..Population pairwise genetic comparisons with other population samples seem to indicate the existence of a major Native American component in the populations from El Salvador...
  24. ncbi request reprint Nine autosomal STRs genotype profiles in a sample from Córdoba (Argentina)
    Juan Carlos Jaime
    Institute of Legal Medicine, Faculty of Medicine, University of Santiago de Compostela, C San Francisco s n, 15782, Santiago de Compostela, Spain
    Forensic Sci Int 139:81-3. 2004
    ..Nine STRs loci have been typed in a sample from Córdoba (Argentina)...
  25. ncbi request reprint Y-chromosome STR-haplotype typing in El Salvador
    José Saul Lovo
    Facultad de Medicina, Instituto de Medicina Legal, University of Santiago de Compostela, C San Francisco s n, 15782 Santiago de Compostela, Galicia, Spain
    Forensic Sci Int 142:45-9. 2004
    ..The gene diversity was 0.9883 and the discrimination capacity was 0.8926. The combined Y-chromosome STR polymorphisms provide a powerful discrimination tool for routine forensic applications...
  26. pmc Multiple local and recent founder effects of TGM1 in Spanish families
    Laura Fachal
    Fundación Pública Galega de Medicina Xenómica SERGAS, Grupo de Medicina Xenómica USC, CIBERER, IDIS, Santiago de Compostela, Spain
    PLoS ONE 7:e33580. 2012
    ..Moreover, these mutations were reported only once outside of Galicia, pointing to the existence of historical episodes of local severe genetic drift in this region...
  27. doi request reprint A melting pot of multicontinental mtDNA lineages in admixed Venezuelans
    Alberto Gómez-Carballa
    Unidade de Xenetica, Instituto de Medicina Legal and Departamento de Anatomía Patolóxica y Ciencias Forenses, Universidade de Santiago de Compostela, Galicia, Spain
    Am J Phys Anthropol 147:78-87. 2012
    ....
  28. pmc A reduced number of mtSNPs saturates mitochondrial DNA haplotype diversity of worldwide population groups
    Antonio Salas
    Unidade de Xenetica, Departamento de Anatomía Patolóxica e Ciencias Forenses, Universidade de Santiago de Compostela, Galicia, Spain
    PLoS ONE 5:e10218. 2010
    ..Applications of the selected mtSNP panel range from anthropologic and medical studies to forensic genetic casework...
  29. pmc SPSmart: adapting population based SNP genotype databases for fast and comprehensive web access
    Jorge Amigo
    Spanish National Genotyping Center CeGen, Genomic Medicine Group, CIBERER, University of Santiago de Compostela, Galicia, Spain
    BMC Bioinformatics 9:428. 2008
    ....
  30. pmc Viability of in-house datamarting approaches for population genetics analysis of SNP genotypes
    Jorge Amigo
    Spanish National Genotyping Center CeGen, Genomic Medicine Group, CIBERER, University of Santiago de Compostela, Galicia, Spain
    BMC Bioinformatics 10:S5. 2009
    ..While many of these SNP repositories have implemented data retrieval tools for general-purpose mining, these alone cannot cover the broad spectrum of needs of most medical and population genetics studies...
  31. doi request reprint Ancestry analysis reveals a predominant Native American component with moderate European admixture in Bolivians
    Tanja Heinz
    Unidade de Xenetica, Instituto de Ciencias Forenses and Departamento de Anatomía Patolóxica e Ciencias Forenses, Grupo de Medicina Xenómica GMX, Facultade de Medicina, Universidade de Santiago de Compostela, 15872, Galicia, Spain
    Forensic Sci Int Genet 7:537-42. 2013
    ..The genetic differences observed in these two groups suggest that forensic genetic analysis should be better performed based on local databases built in the main Bolivian areas. ..
  32. pmc Minisequencing mitochondrial DNA pathogenic mutations
    Vanesa Alvarez-Iglesias
    Unidade de Xenetica, Instituto de Medicina Legal, Facultad de Medicina, Universidad de Santiago de Compostela, Galicia, Spain
    BMC Med Genet 9:26. 2008
    ..In order to overcome technical problems related to the analysis of complete mtDNA genomes, a variety of different techniques have been proposed that allow the screening of coding region pathogenic mutations...
  33. doi request reprint Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study
    Ana Vega
    Fundación Pública Galega de Medicina Xenómica SERGAS, CIBERER, Santiago de Compostela, Galicia, Spain
    Gynecol Oncol 112:210-4. 2009
    ..We have carried out a high-throughput SNP genotyping project in order to shed some light on the complex genetic aetiology of non-familial breast cancer...
  34. pmc Investigating the role of mitochondrial haplogroups in genetic predisposition to meningococcal disease
    Antonio Salas
    Unidade de Xenetica, Departamento de Anatomía Patolóxica e Ciencias Forenses and Instituto de Medicina Legal, Universidade de Santiago de Compostela, Santiago de Compostela, Galicia, Spain
    PLoS ONE 4:e8347. 2009
    ..We investigated whether mitochondrial genetic background contributes to meningococcal disease (MD) susceptibility...
  35. ncbi request reprint Coding region mitochondrial DNA SNPs: targeting East Asian and Native American haplogroups
    V Alvarez Iglesias
    Unidade de Xenetica, Instituto de Medicina Legal, Facultad de Medicina, Universidad de Santiago de Compostela, Santiago de Compostela 15782, Galicia, Spain
    Forensic Sci Int Genet 1:44-55. 2007
    ....
  36. pmc The 'Pokemon' (ZBTB7) Gene: No Evidence of Association with Sporadic Breast Cancer
    Antonio Salas
    Unidade de Xenetica, Instituto de Medicina Legal, Facultad de Medicina, Universidad de Santiago de Compostela, 15782, Galicia, Spain
    Clin Med Oncol 2:357-62. 2008
    ..In this, the first study of the ZBTB7 gene in relation to, sporadic breast cancer, we found no evidence of an association...
  37. ncbi request reprint Micro-geographical differentiation in Northern Iberia revealed by Y-chromosomal DNA analysis
    Maria Brion
    Institute of Legal Medicine, University of Santiago de Compostela, San Francisco s n, 15782 Santiago de Compostela, Spain
    Gene 329:17-25. 2004
    ..Genetic drift in a small isolated population could explain this special behavior, and in addition to its anthropological interest, this finding has important forensic implications...
  38. ncbi request reprint Human genome-wide screen of haplotype-like blocks of reduced diversity
    Javier Costas
    Centro Nacional de Genotipado, Fundacion Publica Galega de Medicina Xenomica, Hospital Clinico Universitario, Universidade de Santiago de Compostela, E15706, Santiago de Compostela, Spain
    Gene 349:219-25. 2005
    ..This fact may present important implications in association studies, leading to a reduction of genotyping efforts...
  39. ncbi request reprint What is a 'novel' mtDNA mutation--and does 'novelty' really matter?
    Hans Jurgen Bandelt
    Department of Mathematics, University of Hamburg, Bundesstr 55, 20146, Hamburg, Germany, and Centro Nacional de Genotipado, Hospital Clinico Universitario, Galicia, Spain
    J Hum Genet 51:1073-82. 2006
    ....
  40. ncbi request reprint mtDNA mutations in tumors of the central nervous system reflect the neutral evolution of mtDNA in populations
    Ana Vega
    Unidad de Medicina Molecular, Hospital Clinico Universitario Universidad de Santiago de Compostela, Galicia, Spain
    Oncogene 23:1314-20. 2004
    ..Most of the tumor-associated changes are common human polymorphisms and mutational hotspots. To explain the molecular behavior of mtDNA instability in tumors, we propose a model also common to other biological situations...
  41. ncbi request reprint Y-chromosome STR haplotypes in Córdoba (Argentina)
    Manuel Fondevila
    Institute of Legal Medicine, Faculty of Medicine, University of Santiago de Compostela, C San Francisco s n, 15782 Santiago de Compostela, Spain
    Forensic Sci Int 137:217-20. 2003
    ..The gene diversity was 0.9875 and the discrimination capacity was 0.8600. The combined polymorphism provides a powerful discrimination tool for routine forensic applications...
  42. pmc Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder
    Vanesa Alvarez-Iglesias
    Unidade de Xenetica, Instituto de Medicina Legal and Departamento de Anatomía Patolóxica e Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain
    BMC Med Genet 12:50. 2011
    ....
  43. pmc New insights into the Lake Chad Basin population structure revealed by high-throughput genotyping of mitochondrial DNA coding SNPs
    Maria Cerezo
    Unidade de Xenetica, Departamento de Anatomía Patolóxica e Ciencias Forenses, Instituto de Medicina Legal, Facultade de Medicina, Universidade de Santiago de Compostela, CIBERER, Galicia, Spain
    PLoS ONE 6:e18682. 2011
    ....
  44. ncbi request reprint Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI)
    Ana Fernández-Marmiesse
    Unidad de Medicina Molecular, Fundacion Publica Galega de Medicina Xenomica, SERGAS, Hospital Clinico Universitario de Santiago, Galicia, Spain
    Hum Mutat 27:214. 2006
    ..The spectrum of mutations in Spanish HI patients provides an important tool for diagnosis and prognosis of HI patients in the Spanish population, as well as for genetic counseling of HI families...
  45. doi request reprint Testing the performance of mtSNP minisequencing in forensic samples
    A Mosquera-Miguel
    Unidade de Xenetica, Departamento de Anatomía Patolóxica e Ciencias Forenses, Instituto de Medicina Legal, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia 15782, Spain
    Forensic Sci Int Genet 3:261-4. 2009
    ....
  46. doi request reprint No evidence that major mtDNA European haplogroups confer risk to schizophrenia
    Ana Mosquera-Miguel
    Unidade de Xenetica, Departamento de Anatomía Patolóxica e Ciencias Forenses and Instituto de Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain
    Am J Med Genet B Neuropsychiatr Genet 159:414-21. 2012
    ..It is unlikely that mtSNPs defining the most common European mtDNA haplogroups are related to SZ...
  47. pmc Evolutionary analyses of entire genomes do not support the association of mtDNA mutations with Ras/MAPK pathway syndromes
    Alberto Gómez-Carballa
    Unidade de Xenetica, Departamento de Anatomía Patolóxica e Ciencias Forenses, and Instituto de Medicina Legal, Facultade de Medicina, Universidad de Santiago de Compostela, Santiago de Compostela, Galicia, Spain
    PLoS ONE 6:e18348. 2011
    ..In order to test these hypotheses, we sequenced entire mtDNA genomes in the largest series of patients suffering from Ras/MAPK pathway syndromes analyzed to date (n = 45), most of them classified as NS patients (n = 42)...
  48. pmc The mitochondrial genome is a "genetic sanctuary" during the oncogenic process
    Marcos Seoane
    Molecular Oncology Laboratory MOL, Facultade de Medicina, Departamento de Fisioloxia, Universidade de Santiago de Compostela, Galicia, Spain
    PLoS ONE 6:e23327. 2011
    ..The integrity of mtDNA seems to be a necessary element for responding to the increased ROS production associated with the oncogenic process...
  49. doi request reprint Evaluating the ability of tree-based methods and logistic regression for the detection of SNP-SNP interaction
    Manuel Garcia-Magariños
    Unidade de Xenetica, Instituto de Medicina Legal and Departamento de Anatomía Patológica y Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain
    Ann Hum Genet 73:360-9. 2009
    ..However, when the study design is suboptimal (unfavourable to detect interaction in terms of e.g. sample size and MAF) there is a high chance of detecting false, spurious associations...
  50. ncbi request reprint SNaPshot typing of mitochondrial DNA coding region variants
    Antonio Salas
    Institute of Legal Medicine, Faculty of Medicine, University of Santiago de Compostela, Santiago de Compostela, Galicia, Spain
    Methods Mol Biol 297:197-208. 2005
    ..The method shows high accuracy and robustness, avoiding both the use of alternative time-consuming classical strategies (i.e., restriction fragment length polymorphism typing) and the requirement of high quantities of DNA template...
  51. pmc The genetic legacy of the pre-colonial period in contemporary Bolivians
    Patricia Taboada-Echalar
    Unidade de Xenetica, Instituto de Ciencias Forenses and Departamento de Anatomía Patolóxica e Ciencias Forenses, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain
    PLoS ONE 8:e58980. 2013
    ..Bolivia shows a decreasing autosomal molecular diversity pattern along the longitudinal axis, from the Altiplano to the lowlands. Both autosomes and mtDNA revealed a low impact (1-2%) of a sub-Saharan component in Bolivians...
  52. pmc Genetic continuity in the Franco-Cantabrian region: new clues from autochthonous mitogenomes
    Alberto Gómez-Carballa
    Unidade de Xenetica, Departamento de Anatomía Patolóxica e Ciencias Forenses, Instituto de Medicina Legal, Facultade de Medicina, Universidade de Santiago de Compostela, Galicia, Spain
    PLoS ONE 7:e32851. 2012
    ..5 kya). However, genetic evidence is still scarce and has been the focus of an intense debate...
  53. pmc ENGINES: exploring single nucleotide variation in entire human genomes
    Jorge Amigo
    Grupo de Medicina Xenómica, CIBERER, Universidade de Santiago de Compostela, Santiago de Compostela, Galicia, Spain
    BMC Bioinformatics 12:105. 2011
    ....
  54. doi request reprint Inferring ancestral origin using a single multiplex assay of ancestry-informative marker SNPs
    C Phillips
    Forensic Genetics Department, University of Santiago de Compostela, 15782, and Centro Nacional de Genotipado CeGen, Hospital Clinico Universitario, 15706 Galicia, Spain
    Forensic Sci Int Genet 1:273-80. 2007
    ..This study shows that by choosing SNPs exhibiting marked allele frequency differences between population-groups a practical forensic test for assigning the most likely ancestry can be achieved from a single multiplexed assay...
  55. ncbi request reprint Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing
    B Quintans
    Unidad de Genetica, Instituto de Medicina Legal, Universidad de Santiago de Compostela, San Francisco s n, Santiago de Compostela, Galicia 15782, Spain
    Forensic Sci Int 140:251-7. 2004
    ..e. RFLP typing) and the need for high quantities of DNA template...
  56. doi request reprint Case report: identification of skeletal remains using short-amplicon marker analysis of severely degraded DNA extracted from a decomposed and charred femur
    M Fondevila
    Institute of Legal Medicine, Genomic Medicine Group, Universidade de Santiago de Compostela, Santiago de Compostela, Galicia, Spain
    Forensic Sci Int Genet 2:212-8. 2008
    ..The results also suggest a modified ancient DNA extraction procedure offers improved typing success from degraded skeletal material...
  57. doi request reprint Current next generation sequencing technology may not meet forensic standards
    Hans Jurgen Bandelt
    Department of Mathematics, University of Hamburg, 20146 Hamburg, Germany
    Forensic Sci Int Genet 6:143-5. 2012
    ..Before one can really set out to access to entire mtDNA genome data with relative ease for forensic purposes, one needs careful calibration studies under strict forensic conditions-or might have to wait for another generation...
  58. ncbi request reprint Clinical and molecular characterization of Wilson disease in Spanish patients
    Antonio Brage
    Servicio de Gastroenterologia, Complejo Hospitalario Universitario Juan Canalejo, A Coruna, Galicia, Spain
    Hepatol Res 37:18-26. 2007
    ..WD patients could start chelating treatment earlier on and possibly modify the natural progression of the disease...
  59. ncbi request reprint Length variability and interspersion patterns of the HRAS1 minisatellite: a new approach for the reconstruction of human population relationships
    A Vega
    Unidad de Medicina Molecular, Hospital de Conxo-Facultade de Medicina, Universidade de Santiago de Compostela, Spain
    Ann Hum Genet 65:351-61. 2001
    ..Furthermore, the characterisation of the HRAS1 minisatellite in chimpanzees revealed clear differences when compared to humans, not only with respect to the allele size but also to the internal structure...
  60. ncbi request reprint Analysis of the vitamin D receptor Fokl polymorphism
    E Vigo
    Department of Physiology, School of Medicine, University of Santiago de Compostela, Santiago de Compostela, Galicia, Spain
    J Endocrinol Invest 27:158-62. 2004
    ..Thus, using a novel 109 bp hVDR gene fragment which excludes the AAT/AAC variant in the vitamin D receptor Fokl allows an easier determination by SSCP analysis of the Fokl polymorphism...
  61. ncbi request reprint New method to measure minisatellite variant repeat variation in population genetic studies
    M Brion
    Institute of Legal Medicine, University of Santiago de Compostela, E 15705 Santiago de Compostela, Galicia, Spain
    Am J Hum Biol 14:421-8. 2002
    ..As an example, the method has been applied to analyze variation in MSY1 (DYF155S1) in five sets of data from European and North African populations...
  62. doi request reprint D9S1120, a simple STR with a common Native American-specific allele: forensic optimization, locus characterization and allele frequency studies
    C Phillips
    Genomic Medicine Group, CIBERER, University of Santiago de Compostela, Galicia, Spain
    Forensic Sci Int Genet 3:7-13. 2008
    ....
  63. ncbi request reprint Results of the 2003-2004 GEP-ISFG collaborative study on mitochondrial DNA: focus on the mtDNA profile of a mixed semen-saliva stain
    Manuel Crespillo
    Instituto Nacional de Toxicologia y Ciencias Forenses, Servicio de Biología, Barcelona, Spain
    Forensic Sci Int 160:157-67. 2006
    ..During the GEP-ISFG annual conference a validation study was planned to progress in the interpretation of mtDNA from different mixtures...
  64. ncbi request reprint Low "penetrance" of phylogenetic knowledge in mitochondrial disease studies
    Hans Jurgen Bandelt
    Department of Mathematics, University of Hamburg, Germany
    Biochem Biophys Res Commun 333:122-30. 2005
    ..To further validate our phylogenetic deductions, we completely sequenced two mtDNAs from healthy subjects that nearly match the mtDNAs of two patients, whose sequences gave problematic results...
  65. ncbi request reprint The genetic legacy of western Bantu migrations
    Sandra Beleza
    Instituto de Patologia e Imunologia, Universidade do Porto, Rua Dr Roberto Frias, S N, 4200 465 Porto, Portugal
    Hum Genet 117:366-75. 2005
    ..The data also indicate that the western stream of the Bantu expansion was a more gradual process than the eastern counterpart, which likely involved multiple short dispersals...
  66. ncbi request reprint Problems in FBI mtDNA database
    Hans Jurgen Bandelt
    Science 305:1402-4. 2004
  67. ncbi request reprint Insights into the western Bantu dispersal: mtDNA lineage analysis in Angola
    Stéphanie Plaza
    Unitat de Biologia Evolutiva, Facultat de Ciencies de la Salut i de la Vida, Universitat Pompeu Fabra, Doctor Aiguader 80, 08003, Barcelona, Spain
    Hum Genet 115:439-47. 2004
    ....
  68. ncbi request reprint A multiplex assay with 52 single nucleotide polymorphisms for human identification
    Juan J Sanchez
    Department of Forensic Genetics, Institute of Forensic Medicine, University of Copenhagen, Copenhagen, Denmark
    Electrophoresis 27:1713-24. 2006
    ..Typical paternity indices ranged from 336 000 in Asians to 549 000 in Europeans. Details of the 52 SNP loci and population data generated in this work are freely available at http://www.snpforid.org...
  69. ncbi request reprint STR-CODIS typing in Greece
    Ioulia Skitsa
    DNA Analysis Laboratory, Legal Medicine Department of Athens, 10 Anapafseos Street, Athens 11636, Spain
    Forensic Sci Int 137:104-6. 2003
    ..Thirteen STRs loci have been typed in a sample from Greece...
  70. ncbi request reprint Analysis of the CODIS autosomal STR loci in four main Colombian regions
    Manuel Paredes
    Laboratorio de ADN, Instituto Nacional de Medicina Legal y Ciencias Forenses de Colombia, Calle 7 A Nro 12 61 piso 3, Bogota, Colombia
    Forensic Sci Int 137:67-73. 2003
    ....
  71. ncbi request reprint The 2000-2001 GEP-ISFG Collaborative Exercise on mtDNA: assessing the cause of unsuccessful mtDNA PCR amplification of hair shaft samples
    Lourdes Prieto
    Comisara General de Policía Científica, Sección de Biología ADN, Madrid, Spain
    Forensic Sci Int 134:46-53. 2003
    ..As a general conclusion the results emphasize the need of external proficiency testing as part of the accreditation procedure for the labs performing mtDNA analysis in forensic casework...
  72. pmc The fingerprint of phantom mutations in mitochondrial DNA data
    Hans Jurgen Bandelt
    Department of Mathematics, University of Hamburg
    Am J Hum Genet 71:1150-60. 2002
    ..The filtering procedure is illustrated with two mtDNA data sets that were severely affected by phantom mutations...
  73. ncbi request reprint Predisposing HLA-DQ2 and HLA-DQ8 haplotypes of coeliac disease and associated enteropathy in microscopic colitis
    Fernando Fernández-Bañares
    Department of Gastroenterology, Hospital Universitari Mutua Terrassa, Barcelona, Spain
    Eur J Gastroenterol Hepatol 17:1333-8. 2005
    ..To assess the presence of both genetic and serological markers of coeliac disease in patients with microscopic colitis, and whether there was associated enteropathy...
  74. ncbi request reprint Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes
    Gloria Ribas
    Grupo de Genética Humana Programa de Patología Molecular, Centro Nacional de Investigaciones Oncologicas CNIO, C Melchor Fdz Almagro 3, E 28029 Madrid, Spain
    Hum Genet 118:669-79. 2006
    ..Our results show generally high concordance with HapMap data in allele frequencies and haplotype distributions and confirm the applicability of HapMap SNP data to the study of complex diseases among the Spanish population...
  75. ncbi request reprint A reappraisal of complete mtDNA variation in East Asian families with hearing impairment
    Yong Gang Yao
    Key Laboratory of Cellular and Molecular Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China
    Hum Genet 119:505-15. 2006
    ..The roles of other haplogroup specific or associated variants, such as A827G, T961C, T1005C, in East Asian subjects with aminoglycoside-induced and non-syndromic hearing loss are also unclear in view of the known mtDNA phylogeny...
  76. pmc The phylogeny of the four pan-American MtDNA haplogroups: implications for evolutionary and disease studies
    Alessandro Achilli
    Dipartimento di Genetica e Microbiologia, Universita di Pavia, Pavia, Italy
    PLoS ONE 3:e1764. 2008
    ..In addition, the phylogenetic approach also indicates that the pathogenic status proposed for various mtDNA mutations, which actually define branches of Native American haplogroups, was based on insufficient grounds...
  77. pmc Maternal traces of deep common ancestry and asymmetric gene flow between Pygmy hunter-gatherers and Bantu-speaking farmers
    Lluis Quintana-Murci
    Human Evolutionary Genetics Unit, Centre National de la Recherche Scientifique URA3012, Institut Pasteur, 75015 Paris, France
    Proc Natl Acad Sci U S A 105:1596-601. 2008
    ....
  78. doi request reprint Is mitochondrial DNA variation associated with sporadic breast cancer risk?
    Ana Mosquera-Miguel
    Cancer Res 68:623-5; author reply 624. 2008
  79. ncbi request reprint The search of 'novel' mtDNA mutations in hypertrophic cardiomyopathy: MITOMAPping as a risk factor
    Hans Jurgen Bandelt
    Int J Cardiol 126:439-42. 2008
    ....
  80. ncbi request reprint Results of the 1999-2000 collaborative exercise and proficiency testing program on mitochondrial DNA of the GEP-ISFG: an inter-laboratory study of the observed variability in the heteroplasmy level of hair from the same donor
    Antonio Alonso
    Departamento de Madrid, Instituto de Toxicologia, Seccion de Biologia, Luis Cabrera 9, 28002 Madrid, Spain
    Forensic Sci Int 125:1-7. 2002
    ..Two laboratories also described more than one heteroplasmic position from a single hair. The relevance of these findings for the interpretation of mtDNA data in the forensic context is also discussed...
  81. ncbi request reprint High penetrance of sequencing errors and interpretative shortcomings in mtDNA sequence analysis of LHON patients
    Hans Jurgen Bandelt
    Department of Mathematics, University of Hamburg, 20146 Hamburg, Germany
    Biochem Biophys Res Commun 352:283-91. 2007
    ..Here, we re-analyse four problematic LHON studies and propose guidelines by which some of the pitfalls could be avoided...
  82. ncbi request reprint ERCC4 associated with breast cancer risk: a two-stage case-control study using high-throughput genotyping
    Roger Laughlin Milne
    National Genotyping Centre, Spanish National Cancer Centre, Madrid, Spain
    Cancer Res 66:9420-7. 2006
    ..This study suggests that common intronic variation in ERCC4 is associated with protection from breast cancer...
  83. ncbi request reprint Testing for genetic structure in different urban Argentinian populations
    Ulises Toscanini
    PRICAI FUNDACION FAVALORO, Av Belgrano 1782, 1er Subsuelo, 1093 Capital Federal, Buenos Aires, Argentina
    Forensic Sci Int 165:35-40. 2007
    ..Therefore, caution should be taken when using a common pooled database with general forensic purposes in Argentina...
  84. ncbi request reprint Dissection of mitochondrial superhaplogroup H using coding region SNPs
    Anita Brandstätter
    Institute of Legal Medicine, Innsbruck Medical University, Austria
    Electrophoresis 27:2541-50. 2006
    ....
  85. ncbi request reprint Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations
    Qing Peng Kong
    Laboratory of Cellular and Molecular Evolution, and Molecular Biology of Domestic Animals, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China
    Hum Mol Genet 15:2076-86. 2006
    ..g. appropriate association studies. Following a guideline based on the phylogenetic knowledge as proposed here could help avoiding similar problems in the future...
  86. ncbi request reprint Intestinal spirochetosis and chronic watery diarrhea: clinical and histological response to treatment and long-term follow up
    Maria Esteve
    Department of Gastroenterology, Mutua Terrassa Hospital, University of Barcelona, Barcelona, Catalonia, Spain
    J Gastroenterol Hepatol 21:1326-33. 2006
    ....
  87. ncbi request reprint Systematic evaluation of the causes of chronic watery diarrhea with functional characteristics
    Fernando Fernández-Bañares
    Department of Gastroenterology, Hospital Universitari Mutua Terrassa, Terrassa, Barcelona, Spain
    Am J Gastroenterol 102:2520-8. 2007
    ....
  88. ncbi request reprint 'Distorted' mitochondrial DNA sequences in schizophrenic patients
    Hans Jurgen Bandelt
    Eur J Hum Genet 15:400-2; author reply 402-4. 2007