Publications by authors named "Begoña Martínez-Jarreta"

48 Publications

Study of 17 X-STRs in Native American and Mestizo populations of Central America for forensic and population purposes.

Int J Legal Med 2021 Mar 19. Epub 2021 Mar 19.

BIOMICs Research Group, Lascaray Research Center, University of the Basque Country UPV/EHU, Vitoria-Gasteiz, Spain.

In the present work, an extensive analysis of the X-chromosomal pool of Native American and Mestizo groups of Central America (Guatemala, El Salvador, Nicaragua, and Panama) has been carried out. Allele and haplotype frequency databases, as well as other forensic parameters for these populations, are presented. The admixture analysis supports the tri-hybrid composition in terms of ancestry in the Mestizo populations, with a predominant Native American contribution (54-69%), followed by European (19-28%) and African contributions (12-19%). Pairwise F genetic distances highlight the genetic proximity between the northernmost Central American populations, especially among admixed populations. The unique and complex nature of this area, where populations from different origins intercrossed, as well as the informativity of X-STR data, highpoint the great interest of this genetic study. Furthermore, the X-chromosome databases for Central American populations here provided will be not only useful for forensic and population purposes not only in the target countries but also in the host countries.
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http://dx.doi.org/10.1007/s00414-021-02536-9DOI Listing
March 2021

Education and training for preventing and minimizing workplace aggression directed toward healthcare workers.

Cochrane Database Syst Rev 2020 09 8;9:CD011860. Epub 2020 Sep 8.

School of Criminology, University of Montreal, Montreal, Canada.

Background: Workplace aggression constitutes a serious issue for healthcare workers and organizations. Aggression is tied to physical and mental health issues at an individual level, as well as to absenteeism, decreased productivity or quality of work, and high employee turnover rates at an organizational level. To counteract these negative impacts, organizations have used a variety of interventions, including education and training, to provide workers with the knowledge and skills needed to prevent aggression.  OBJECTIVES: To assess the effectiveness of education and training interventions that aim to prevent and minimize workplace aggression directed toward healthcare workers by patients and patient advocates.

Search Methods: CENTRAL, MEDLINE, Embase, six other databases and five trial registers were searched from their inception to June 2020 together with reference checking, citation searching and contact with study authors to identify additional studies.

Selection Criteria: Randomized controlled trials (RCTs), cluster-randomized controlled trials (CRCTs), and controlled before and after studies (CBAs) that investigated the effectiveness of education and training interventions targeting aggression prevention for healthcare workers.

Data Collection And Analysis: Four review authors evaluated and selected the studies resulting from the search. We used standard methodological procedures expected by Cochrane. We assessed the certainty of evidence using the GRADE approach.

Main Results: We included nine studies-four CRCTs, three RCTs, and two CBAs-with a total of 1688 participants. Five studies reported episodes of aggression, and six studies reported secondary outcomes. Seven studies were conducted among nurses or nurse aides, and two studies among healthcare workers in general. Three studies took place in long-term care, two in the psychiatric ward, and four in hospitals or health centers. Studies were reported from the United States, Switzerland, the United Kingdom, Taiwan, and Sweden. All included studies reported on education combined with training interventions. Four studies evaluated online programs, and five evaluated face-to-face programs. Five studies were of long duration (up to 52 weeks), and four studies were of short duration. Eight studies had short-term follow-up (< 3 months), and one study long-term follow-up (> 1 year). Seven studies were rated as being at "high" risk of bias in multiple domains, and all had "unclear" risk of bias in a single domain or in multiple domains. Effects on aggression Short-term follow-up The evidence is very uncertain about effects of education and training on aggression at short-term follow-up compared to no intervention (standardized mean difference [SMD] -0.33, 95% confidence interval [CI] -1.27 to 0.61, 2 CRCTs; risk ratio [RR] 2.30, 95% CI 0.97 to 5.42, 1 CBA; SMD -1.24, 95% CI -2.16 to -0.33, 1 CBA; very low-certainty evidence). Long-term follow-up Education may not reduce aggression compared to no intervention in the long term (RR 1.14, 95% CI 0.95 to 1.37, 1 CRCT; low-certainty evidence). Effects on knowledge, attitudes, skills, and adverse outcomes Education may increase personal knowledge about workplace aggression at short-term follow-up (SMD 0.86, 95% CI 0.34 to 1.38, 1 RCT; low-certainty evidence). The evidence is very uncertain about effects of education on personal knowledge in the long term (RR 1.26, 95% CI 0.90 to 1.75, 1 RCT; very low-certainty evidence). Education may improve attitudes among healthcare workers at short-term follow-up, but the evidence is very uncertain (SMD 0.59, 95% CI 0.24 to 0.94, 2 CRCTs and 3 RCTs; very low-certainty evidence). The type and duration of interventions resulted in different sizes of effects. Education may not have an effect on skills related to workplace aggression (SMD 0.21, 95% CI -0.07 to 0.49, 1 RCT and 1 CRCT; very low-certainty evidence) nor on adverse personal outcomes, but the evidence is very uncertain (SMD -0.31, 95% CI -1.02 to 0.40, 1 RCT; very low-certainty evidence). Measurements of these concepts showed high heterogeneity.

Authors' Conclusions: Education combined with training may not have an effect on workplace aggression directed toward healthcare workers, even though education and training may increase personal knowledge and positive attitudes. Better quality studies that focus on specific settings of healthcare work where exposure to patient aggression is high are needed. Moreover, as most studies have assessed episodes of aggression toward nurses, future studies should include other types of healthcare workers who are also victims of aggression in the same settings, such as orderlies (healthcare assistants). Studies should especially use reports of aggression at an institutional level and should rely on multi-source data while relying on validated measures. Studies should also include days lost to sick leave and employee turnover and should measure outcomes at one-year follow-up. Studies should specify the duration and type of delivery of education and should use an active comparison to prevent raising awareness and reporting in the intervention group only.
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http://dx.doi.org/10.1002/14651858.CD011860.pub2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8094156PMC
September 2020

Improving Education and Training to Reduce the Burden of Occupational Cancer. The Riga-European Association of Schools of Occupational Medicine (EASOM) Statement on Work-Related Cancer.

Int J Environ Res Public Health 2020 03 28;17(7). Epub 2020 Mar 28.

Centre for Environment and Health, KU Leuven, 3000 Leuven, Belgium.

Reducing the burden of occupational cancers (OCs) is currently one of the most challenging Occupational Health (OH) issues. The European Union (EU) has made efforts to improve the existing legal framework and developed specific legislation aimed at reducing the burden of OC. However, available data suggest that OC are underreported. In August 2019, the European Association of Schools of Occupational Medicine (EASOM) adopted a statement that highlighted the importance of improving the education and training of Medical Doctors (MDs) to facilitate improvements in recognizing and reporting OC. To achieve this, EASOM proposes to promote OH education and training of MDs at undergraduate and postgraduate levels, foster harmonization of OH education and teaching standards and programs across EU countries, and enhance cooperation between universities and international scientific associations. Finally, we suggest that occupational data should be recorded in cancer and medical registers. By engaging MDs more fully in the debate about OCs, they will become more aware of the Occupational Physician's role in reducing the burden of OCs and, furthermore, embed consideration of occupation as a potential cause of cancer into their own practice. These interventions will help promote the implementation of policies and interventions aimed to reduce OC in the workplace.
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http://dx.doi.org/10.3390/ijerph17072279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7178232PMC
March 2020

Occupational cancer: A hidden reality and an awaiting challenge.

Med Clin (Barc) 2020 01 20;154(1):23-28. Epub 2019 Nov 20.

Cátedra de Medicina Legal y Forense y Cátedra MAZ de Medicina del Trabajo, Universidad de Zaragoza, Zaragoza, España; Grupo Consolidado de Investigación GIIS-063, Instituto de Investigación Sanitaria de Aragón (ISS-Aragón), Zaragoza, España.

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http://dx.doi.org/10.1016/j.medcli.2019.08.005DOI Listing
January 2020

Assessment of a subset of Slowly Mutating Y-STRs for forensic and evolutionary studies.

Forensic Sci Int Genet 2018 05 20;34:e7-e12. Epub 2018 Mar 20.

BIOMICs Research Group, Lascaray Research Center, University of the Basque Country UPV/EHU, Avda. Miguel de Unamuno, 3, 01006, Vitoria-Gasteiz, Spain. Electronic address:

Y-specific short tandem repeat (Y-STR) loci display different mutation rates and consequently are suitable for forensic, genealogical, and evolutionary studies that require different levels of timelines and resolution. Recent efforts have focused on implementing Rapidly Mutating (RM) Y-STRs to assess male specific profiles. However, due to their high mutation rate their use in kinship testing or in phylogenetic studies may be less reliable. In the present study, a novel Slowly Mutating Y-STR (SM) panel, including DYS388, DYS426, DYS461 (Y-GATA-A7.2), DYS485, DYS525, and DYS561, has been developed and evaluated in a sample set of 628 unrelated males from different worldwide populations. This panel is reproducible, sensitive, and robust for forensic applications and may be useful in conjunction with the common multiplexes, particularly in exclusion of kinship cases where minimal discrimination is reported employing the rapidly mutating Y-STR systems. Furthermore, SM Y-STR data may be of value in evolutionary studies to optimize the resolution of phylogenetic relationships generated with current Y-STR panel sets. In this study, we provide an extensive Y-STR allele and haplotype reference dataset for future applications.
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http://dx.doi.org/10.1016/j.fsigen.2018.03.008DOI Listing
May 2018

Analysis of the R1b-DF27 haplogroup shows that a large fraction of Iberian Y-chromosome lineages originated recently in situ.

Sci Rep 2017 08 4;7(1):7341. Epub 2017 Aug 4.

Institut de Biologia Evolutiva (CSIC-UPF), Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Barcelona, Catalonia, Spain.

Haplogroup R1b-M269 comprises most Western European Y chromosomes; of its main branches, R1b-DF27 is by far the least known, and it appears to be highly prevalent only in Iberia. We have genotyped 1072 R1b-DF27 chromosomes for six additional SNPs and 17 Y-STRs in population samples from Spain, Portugal and France in order to further characterize this lineage and, in particular, to ascertain the time and place where it originated, as well as its subsequent dynamics. We found that R1b-DF27 is present in frequencies ~40% in Iberian populations and up to 70% in Basques, but it drops quickly to 6-20% in France. Overall, the age of R1b-DF27 is estimated at ~4,200 years ago, at the transition between the Neolithic and the Bronze Age, when the Y chromosome landscape of W Europe was thoroughly remodeled. In spite of its high frequency in Basques, Y-STR internal diversity of R1b-DF27 is lower there, and results in more recent age estimates; NE Iberia is the most likely place of origin of DF27. Subhaplogroup frequencies within R1b-DF27 are geographically structured, and show domains that are reminiscent of the pre-Roman Celtic/Iberian division, or of the medieval Christian kingdoms.
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http://dx.doi.org/10.1038/s41598-017-07710-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5544771PMC
August 2017

Population genetic data of 38 insertion-deletion markers in six populations of the northern fringe of the Iberian Peninsula.

Forensic Sci Int Genet 2017 03 3;27:175-179. Epub 2017 Jan 3.

BIOMICs Research Group, Centro de Investigación "Lascaray" Ikergunea, Universidad del País Vasco UPV/EHU, Vitoria-Gasteiz, Spain. Electronic address:

Insertion-deletions have been reported very useful markers for forensic purposes. To further deepen in this matter, 38 non-coding bi-allelic autosomal indels were analyzed in 575 individuals representing six populations from the northern fringe of the Iberian Peninsula. Autochthonous populations from the Basque Country, northern Navarre, the Pas Valley in Cantabria and Aragon were analyzed, together with non-autochthonous populations from the Basque Country and northern Navarre. At the intra-population level, all loci analyzed were in Hardy-Weinberg equilibrium except for marker rs33917182 in autochthonous Basques. Linkage disequilibrium (LD) test did not reveal statistically significant allelic association between the different loci pairs in all six populations. Forensic parameters proved to be highly informative in the six populations analyzed, even if a scenario with population substructure and local inbreeding was considered for match probability calculations, and the potential of this indels set to be used in combination with other genetic markers is remarkable. As for inter-population analyses, in general terms the six populations showed low but statistically significant genetic distances. However, though this indels set efficiently differentiate between main ancestries, it does not allow an accurate separation at a local level and, for the time being, their combination with other informative markers is needed to maximize the power to accurately differentiate populations with close genetic ancestry.
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http://dx.doi.org/10.1016/j.fsigen.2016.12.014DOI Listing
March 2017

Characterization of the Iberian Y chromosome haplogroup R-DF27 in Northern Spain.

Forensic Sci Int Genet 2017 03 29;27:142-148. Epub 2016 Dec 29.

BIOMICs Research Group, Lascaray Research Center, University of the Basque Country UPV/EHU, Vitoria-Gasteiz, Spain. Electronic address:

The European paternal lineage R-DF27 has been proposed as a haplogroup of Iberian origin due to its maximum frequencies in the Iberian Peninsula. In this study, the distribution and structure of DF27 were characterized in 591 unrelated male individuals from four key populations of the north area of the Iberian Peninsula through the analysis of 12 Y-SNPs that define DF27 main sublineages. Additionally, Y-SNP allele frequencies were also gathered from the reference populations in the 1000 Genomes Project to compare and obtain a better landscape of the distribution of DF27. Our results reveal frequencies over 35% of DF27 haplogroup in the four North Iberian populations analyzed and high frequencies for its subhaplogroups. Considering the low frequency of DF27 and its sublineages in most populations outside of the Iberian Peninsula, this haplogroup seems to have geographical significance; thus, indicating a possible Iberian patrilineal origin of vestiges bearing this haplogroup. The dataset presented here contributes with new data to better understand the complex genetic variability of the Y chromosome in the Iberian Peninsula, that can be applied in Forensic Genetics.
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http://dx.doi.org/10.1016/j.fsigen.2016.12.013DOI Listing
March 2017

17 to 23: A novel complementary mini Y-STR panel to extend the Y-STR databases from 17 to 23 markers for forensic purposes.

Electrophoresis 2017 04 13;38(7):1016-1021. Epub 2017 Jan 13.

BIOMICs Research Group, Lascaray Research Center, University of the Basque Country UPV/EHU. Avda. Miguel de Unamuno, Vitoria-Gasteiz, Spain.

A Y-STR multiplex system has been developed with the purpose of complementing the widely used 17 Y-STR haplotyping (AmpFlSTR Y Filer® PCR Amplification kit) routinely employed in forensic and population genetic studies. This new multiplex system includes six additional STR loci (DYS576, DYS481, DYS549, DYS533, DYS570, and DYS643) to reach the 23 Y-STR of the PowerPlex® Y23 System. In addition, this kit includes the DYS456 and DYS385 loci for traceability purposes. Male samples from 625 individuals from ten worldwide populations were genotyped, including three sample sets from populations previously published with the 17 Y-STR system to expand their current data. Validation studies demonstrated good performance of the panel set in terms of concordance, sensitivity, and stability in the presence of inhibitors and artificially degraded DNA. The results obtained for haplotype diversity and discrimination capacity with this multiplex system were considerably high, providing further evidences of the suitability of this novel Y-STR system for forensic purposes. Thus, the use of this multiplex for samples previously genotyped with 17 Y-STRs will be an efficient and low-cost alternative to complete the set of 23 Y-STRs and improve allele databases for population and forensic purposes.
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http://dx.doi.org/10.1002/elps.201600313DOI Listing
April 2017

Forensic Spanish allele and haplotype database for a 17 X-STR panel.

Forensic Sci Int Genet 2016 09 22;24:120-123. Epub 2016 Jun 22.

BIOMICs Research Group, Lascaray Research Center, University of the Basque Country UPV/EHU. Avda. Miguel de Unamuno, 3. 01006 Vitoria-Gasteiz, Spain. Electronic address:

The currently developed 17 X-STR panel (DXS8378, DXS9898, DXS7133, GATA31E08, GATA172D05, DXS6801, DXS7423, DXS6809, DXS6799, DXS7132, DXS9902, DXS6800, DXS6789, DXS10075, DXS10079, DXS6807, and DXS6803) offers a highly discriminative tool for forensic identification and kinship testing. With the aim of providing a global Spanish population X-STR database, we present haplotype and allele frequencies and parameters of forensic interest for the 17 X-STR panel obtained from 593 unrelated individuals from Alicante, Aragon, the Basque Country, Andalusia, Galicia, Madrid, and Barcelona that represent the most populated regions of the Spanish Peninsular territory. The seven populations were compared to test possible population genetic substructures. The lack of significant differences among the studied Spanish populations supports the use of the allele and haplotype frequency database presented herein as a global Spanish population sample useful for statistical evaluation in forensic casework. After conducting the LD plots derived from HapMap and pairwise linkage disequilibrium tests, DXS7132, DXS10075, and DXS10079 markers were included in a cluster and haplotype frequencies were calculated. The improvement in the forensic parameters for the Spanish population using 17 X-STRs in comparison to the previous 10 X-STR allele frequencies database is also shown.
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http://dx.doi.org/10.1016/j.fsigen.2016.06.016DOI Listing
September 2016

[Aggressions towards healthcare workers in Spain: Status a after the recent modification of the Spanish Penal Code].

Med Clin (Barc) 2016 07 18;147(1):35-42. Epub 2016 Mar 18.

Grupo Consolidado de Investigación B44 de la Diputación General de Aragón y de Medicina del Trabajo, Instituto de Investigación Sanitaria de Aragón, Zaragoza, España; Cátedra de Medicina Forense y Medicina del Trabajo, Universidad de Zaragoza, Zaragoza, España.

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http://dx.doi.org/10.1016/j.medcli.2016.01.010DOI Listing
July 2016

Highly discriminatory capacity of the PowerPlex(®) Y23 System for the study of isolated populations.

Forensic Sci Int Genet 2015 Jul 9;17:104-107. Epub 2015 Apr 9.

BIOMICs Research Group, Centro de Investigación "Lascaray" Ikergunea, Universidad del País Vasco UPV/EHU, Vitoria-Gasteiz, Spain. Electronic address:

In order to evaluate the forensic utility of the new PowerPlex(®) Y23 System, two Northern Spanish populations, the autochthonous Basque Country (N=105) and Cantabria (N=98), were typed. Two of the new markers incorporated in the panel, the rapid mutating loci DYS576 and DYS570, were among the most discriminative markers in both population datasets. In terms of the analysis of 23 Y-STRs, the two populations showed high haplotype diversities, with values slightly superior in the population of Cantabria (1±0.0015) than in the Basque Country (0.9987±0.0016). The comparison of the discrimination capacity obtained with the analysis of 23 Y-STRs and other available markers sets of 12 Y-STRs (PowerPlex(®) Y System) or 17 Y-STRs (YFiler™), clearly demonstrated an improvement in the population of the Basque Country. Nevertheless, in Cantabria this augment was only seen when the number of markers was increased from 12 to 23, since the study of 17 Y-STRs was enough to differentiate all haplotypes. Therefore, this study shows that the improvement in forensic parameters by increasing the number of Y-STR markers analyzed is much more pronounced in the case of isolated populations such as the autochthonous population of the Basque Country, as it facilitates the differentiation among similar haplotypes. Moreover, by the use of the PowerPlex(®) Y23 identification of population specific haplotypes increased in both populations. Ultimately, the analysis of 23 Y-STRs differentiated among the two geographically close populations of Basque Country and Cantabria. Indeed it showed significant differences between the Basque Country population and all European populations included, meanwhile Cantabria did exhibit significant proximity with the Iberian and the majority of European populations considered.
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http://dx.doi.org/10.1016/j.fsigen.2015.04.005DOI Listing
July 2015

Trends in incidence of occupational asthma, contact dermatitis, noise-induced hearing loss, carpal tunnel syndrome and upper limb musculoskeletal disorders in European countries from 2000 to 2012.

Occup Environ Med 2015 Apr 9;72(4):294-303. Epub 2015 Jan 9.

Centre for Occupational and Environmental Health, University of Manchester, Manchester, UK.

Objectives: The European Union (EU) strategy for health and safety at work underlines the need to reduce the incidence of occupational diseases (OD), but European statistics to evaluate this common goal are scarce. We aim to estimate and compare changes in incidence over time for occupational asthma, contact dermatitis, noise-induced hearing loss (NIHL), carpal tunnel syndrome (CTS) and upper limb musculoskeletal disorders across 10 European countries.

Methods: OD surveillance systems that potentially reflected nationally representative trends in incidence within Belgium, the Czech Republic, Finland, France, Italy, the Netherlands, Norway, Spain, Switzerland and the UK provided data. Case counts were analysed using a negative binomial regression model with year as the main covariate. Many systems collected data from networks of 'centres', requiring the use of a multilevel negative binomial model. Some models made allowance for changes in compensation or reporting rules.

Results: Reports of contact dermatitis and asthma, conditions with shorter time between exposure to causal substances and OD, were consistently declining with only a few exceptions. For OD with physical causal exposures there was more variation between countries. Reported NIHL was increasing in Belgium, Spain, Switzerland and the Netherlands and decreasing elsewhere. Trends in CTS and upper limb musculoskeletal disorders varied widely within and between countries.

Conclusions: This is the first direct comparison of trends in OD within Europe and is consistent with a positive impact of European initiatives addressing exposures relevant to asthma and contact dermatitis. Taking a more flexible approach allowed comparisons of surveillance data between and within countries without harmonisation of data collection methods.
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http://dx.doi.org/10.1136/oemed-2014-102534DOI Listing
April 2015

A global analysis of Y-chromosomal haplotype diversity for 23 STR loci.

Forensic Sci Int Genet 2014 Sep 28;12:12-23. Epub 2014 Apr 28.

Forensische Genetik, Kantonsspital Aarau AG, Switzerland.

In a worldwide collaborative effort, 19,630 Y-chromosomes were sampled from 129 different populations in 51 countries. These chromosomes were typed for 23 short-tandem repeat (STR) loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385ab, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, GATAH4, DYS481, DYS533, DYS549, DYS570, DYS576, and DYS643) and using the PowerPlex Y23 System (PPY23, Promega Corporation, Madison, WI). Locus-specific allelic spectra of these markers were determined and a consistently high level of allelic diversity was observed. A considerable number of null, duplicate and off-ladder alleles were revealed. Standard single-locus and haplotype-based parameters were calculated and compared between subsets of Y-STR markers established for forensic casework. The PPY23 marker set provides substantially stronger discriminatory power than other available kits but at the same time reveals the same general patterns of population structure as other marker sets. A strong correlation was observed between the number of Y-STRs included in a marker set and some of the forensic parameters under study. Interestingly a weak but consistent trend toward smaller genetic distances resulting from larger numbers of markers became apparent.
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http://dx.doi.org/10.1016/j.fsigen.2014.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4127773PMC
September 2014

Genetic polymorphisms of CYP2C8, CYP2C9 and CYP2C19 in Ecuadorian Mestizo and Spaniard populations: a comparative study.

Mol Biol Rep 2014 Mar 16;41(3):1267-72. Epub 2014 Jan 16.

Department of Pharmacology, University of Zaragoza, 50009, Saragossa, Spain,

This study was designed to investigate the potential differences between Spaniards and Ecuadorian Mestizo people regarding CYP2C8, CYP2C9, and CYP2C19 genetic polymorphisms. DNA from 282 Spaniard and 297 Ecuadorian subjects were analyzed by either a previously reported pyrosequencing method (CY2C8*3, CYP2C9*2, CYP2C9*3, CYP2C19*2 and CYP2C19*3) or a nested PCR technique (CYP2C19*17). Whereas CYP2C19*17 allele distribution was higher in Ecuadorians than in Spaniards (P < 0.001) and the frequency of CYP2C19*3 was similar in these two populations (P > 0.05), the other allelic variants were detected at significantly lower frequencies in Ecuadorians than in Spaniards (P < 0.05). According to the diplotype distributions, the prevalence of the presumed CYP2C9 and CYP2C8 extensive metabolizers was higher in Ecuadorians than in Spaniards (P < 0.05). Individuals genotyped CYP2C19*1/*17 and *17/*17 who were considered as ultrarapid metabolizers were overrepresented in Ecuadorians in relation to Spaniards (P < 0.001). By contrast, among Ecuadorians no poor metabolizers (PMs) of either CYP2C8 or CYP2C9 were found and only two individuals were CYP2C19 PMs. These data are compatible with a higher CYP2C8, CYP2C9, and CYP2C19 activity in Mestizo Ecuadorians as opposed to Spaniards, which could imply differences in dosage requirements for drugs metabolized by these cytochromes and should also be considered in allele-disease association studies.
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http://dx.doi.org/10.1007/s11033-013-2971-yDOI Listing
March 2014

Continent-wide decoupling of Y-chromosomal genetic variation from language and geography in native South Americans.

PLoS Genet 2013 Apr 11;9(4):e1003460. Epub 2013 Apr 11.

Institute of Legal Medicine and Forensic Sciences, Department of Forensic Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

Numerous studies of human populations in Europe and Asia have revealed a concordance between their extant genetic structure and the prevailing regional pattern of geography and language. For native South Americans, however, such evidence has been lacking so far. Therefore, we examined the relationship between Y-chromosomal genotype on the one hand, and male geographic origin and linguistic affiliation on the other, in the largest study of South American natives to date in terms of sampled individuals and populations. A total of 1,011 individuals, representing 50 tribal populations from 81 settlements, were genotyped for up to 17 short tandem repeat (STR) markers and 16 single nucleotide polymorphisms (Y-SNPs), the latter resolving phylogenetic lineages Q and C. Virtually no structure became apparent for the extant Y-chromosomal genetic variation of South American males that could sensibly be related to their inter-tribal geographic and linguistic relationships. This continent-wide decoupling is consistent with a rapid peopling of the continent followed by long periods of isolation in small groups. Furthermore, for the first time, we identified a distinct geographical cluster of Y-SNP lineages C-M217 (C3*) in South America. Such haplotypes are virtually absent from North and Central America, but occur at high frequency in Asia. Together with the locally confined Y-STR autocorrelation observed in our study as a whole, the available data therefore suggest a late introduction of C3* into South America no more than 6,000 years ago, perhaps via coastal or trans-Pacific routes. Extensive simulations revealed that the observed lack of haplogroup C3* among extant North and Central American natives is only compatible with low levels of migration between the ancestor populations of C3* carriers and non-carriers. In summary, our data highlight the fact that a pronounced correlation between genetic and geographic/cultural structure can only be expected under very specific conditions, most of which are likely not to have been met by the ancestors of native South Americans.
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http://dx.doi.org/10.1371/journal.pgen.1003460DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3623769PMC
April 2013

The role of aggressions suffered by healthcare workers as predictors of burnout.

J Clin Nurs 2013 Nov 17;22(21-22):3120-9. Epub 2012 Sep 17.

Authors: Santiago Gascon, PhD, Assistant Professor, Department of Psychology, Zaragoza University, Teruel, Spain; Michael P Leiter, PhD, Professor, Centre for Organisational and Development Research, Acadia University, Wolfville, NS, Canada; Joao P Pereira, PhD, Assistant Professor, Instituto Superior de Maia, Castelo da Maia; María J Cunha, PhD, Assistant Professor, Instituto Superior de Maia, Castelo da Maia, Portugal; Agustín Albesa, PhD Student, Psychologist and Lawyer, Department of Psychology, Zaragoza University, Zaragoza; Jesus Montero-Marín, PhD, Assistant Professor, Zaragoza University, Zaragoza; Javier García-Campayo, PhD, Professor, Department of Psychiatry Zaragoza University, Zaragoza, Spain.

Aims And Objectives: To examine the prevalence of aggression against healthcare professionals and to determine the possible impact that violent episodes have on healthcare professionals in terms of loss of enthusiasm and involvement towards work. The objective was to analyse the percentage of occupational assault against professionals' aggression in different types of healthcare services, differentiating between physical and verbal aggression as a possible variable in detecting burnout in doctors and nursing professionals.

Background: Leiter and Maslach have explored a double process model of burnout not only based on exhaustion by overload, but also based on personal and organisational value conflicts (community, rewards or values). Moreover, Whittington has obtained conclusive results about the possible relationship between violence and burnout in mental health nurses.

Design: A retrospective study was performed in three hospitals and 22 primary care centres in Spain (n = 1·826).

Methods: Through different questionnaires, we have explored the relationship between aggression suffered by healthcare workers and burnout.

Results: Eleven percent of respondents had been physically assaulted on at least one occasion, whilst 34·4% had suffered threats and intimidation on at least one occasion and 36·6% had been subjected to insults. Both forms of violence, physical and non-physical aggression, showed significant correlations with symptoms of burnout (emotional exhaustion, depersonalisation and inefficacy).

Conclusions: The survey showed evidence of a double process: (1) by which excess workload helps predict burnout, and (2) by which a mismatch in the congruence of values, or interpersonal conflict, contributes in a meaningful way to each of the dimensions of burnout, adding overhead to the process of exhaustion-cynicism-lack of realisation. Relevance to clinical practice.  Studies indicate that health professionals are some of the most exposed to disorders steaming from psychosocial risks and a high comorbidity: anxiety, depression, etc. There is a clear need for accurate instruments of evaluation to detect not only the burnout but also the areas that cause it. Professional exhaustion caused by aggression or other factors can reflect a deterioration in the healthcare relationship.
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http://dx.doi.org/10.1111/j.1365-2702.2012.04255.xDOI Listing
November 2013

Y chromosome haplogroup diversity in a Mestizo population of Nicaragua.

Forensic Sci Int Genet 2012 Dec 6;6(6):e192-5. Epub 2012 Jul 6.

Laboratory of Forensic Genetics, Faculty of Medicine, University of Zaragoza, Spain.

Y chromosome single nucleotide polymorphisms (Y-SNPs) are indispensable markers for haplogroup determination. Since Y chromosome haplogroups show a high specific geographical distribution, they play a major role in population genetics but can also benefit forensic investigations. Although haplogroup prediction methods based on Y chromosome short tandem repeats (Y-STRs) exist and are frequently used, precaution is required in this regard. In this study we determine the Y chromosome haplogroups of a Nicaraguan population using several Y-SNP multiplex reactions. Y chromosome haplogroups have been predicted before, but our results show that a confirmation with Y-SNP typings is necessary. These results have revealed a 4.8% of error in haplogroup prediction based on Y-STR haplotypes using Athey's Haplogroup Predictor. The Nicaraguan Mestizo population displays a majority of Eurasian lineages, mainly represented by haplogroup R-M207 (46.7%). Other Eurasian lineages have been observed, especially J-P209 (13.3%), followed by I-M170 (3.6%) and G-M201 (1.8%). Haplogroup E-P170 was also observed in 15.2% of the sample, particularly subhaplogroup E1b1b1-M35. Finally, the Native American haplogroup Q-M242 was found in 15.2% of the sample, with Q1a3a-M3 being the most frequent.
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http://dx.doi.org/10.1016/j.fsigen.2012.06.011DOI Listing
December 2012

Mitochondrial diversity in Amerindian Kichwa and Mestizo populations from Ecuador.

Int J Legal Med 2012 Mar 22;126(2):299-302. Epub 2011 Dec 22.

Laboratory of Forensic Genetics, Faculty of Medicine, University of Zaragoza, Zaragoza, Spain.

This study presents mitochondrial DNA (mtDNA) data from 107 unrelated individuals from two of the major ethnic groups in Ecuador: Amerindian Kichwas (n = 65) and Mestizos (n = 42). We characterized the diversity of the matrilineal lineages of these Ecuadorian groups by analyzing the entire mtDNA control region. Different patterns of diversity were observed in the two groups as result of the unique historical and demographic events which have occurred in each population. Higher genetic diversity values were obtained for the Mestizo group than for the Amerindian group. Interestingly, only Native American lineages were detected in the two population samples, but with differences in the haplogroup distribution: Kichwa (A, 49%; B, 3%; C, 8%; and D, 40%) and Mestizo (A, 33%; B, 33%; C, 10%; and D, 24%). Analysis of the complete mtDNA control region proved to be useful to increase the discrimination power between individuals who showed common haplotypes in HVSI and HVSII segments; and added valuable information to the phylogenetic interpretation of mtDNA haplotypes.
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http://dx.doi.org/10.1007/s00414-011-0656-4DOI Listing
March 2012

Alu polymorphisms in the Waorani tribe from the Ecuadorian Amazon reflect the effects of isolation and genetic drift.

Am J Hum Biol 2011 Nov-Dec;23(6):790-5. Epub 2011 Sep 28.

Departamento de Genética y Antropología Física, Facultad de Ciencia y Tecnología, Universidad del País Vasco, Spain.

Objectives: The Amazon basin is inhabited by some of the most isolated human groups worldwide. Among them, the Waorani tribe is one of the most interesting Native American populations from the anthropological perspective. This study reports a genetic characterization of the Waorani based on autosomal genetic loci.

Methods: We analyzed 12 polymorphic Alu insertions in 36 Waorani individuals from different communal longhouses settled in the Yasuní National Park.

Results: The most notable finding was the strikingly reduced genetic diversity detected in the Waorani, corroborated by the existence of four monomorphic loci (ACE, APO, FXIIIB, and HS4.65), and of other four Alu markers that were very close to the fixation for the presence (PV92 and D1) or the absence (A25 and HS4.32) of the insertion. Furthermore, results of the centroid analysis supported the notion of the Waorani being one of the Amerindian groups less impacted by gene flow processes.

Conclusions: The prolonged isolation of the Waorani community, in conjunction with a historically low effective population size and high inbreeding levels, have resulted in the drastic reduction of their genetic diversity, because of the effects of severe genetic drift. Recurrent population bottlenecks most likely determined by certain deep-rooted sociocultural practices of the Waorani (characterized by violence, internal quarrels, and revenge killings until recent times) are likely responsible for this pattern of diversity. The findings of this study illustrate how sociocultural factors can shape the gene pool of human populations.
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http://dx.doi.org/10.1002/ajhb.21216DOI Listing
February 2012

Genetic analysis of 7 medieval skeletons from the Aragonese Pyrenees.

Croat Med J 2011 Jun;52(3):336-43

Department of Forensic Medicine, Faculty of Medicine, University of Zaragoza, Zaragoza, Spain.

Aim: To perform a genetic characterization of 7 skeletons from medieval age found in a burial site in the Aragonese Pyrenees.

Methods: Allele frequencies of autosomal short tandem repeats (STR) loci were determined by 3 different STR systems. Mitochondrial DNA (mtDNA) and Y-chromosome haplogroups were determined by sequencing of the hypervariable segment 1 of mtDNA and typing of phylogenetic Y chromosome single nucleotide polymorphisms (Y-SNP) markers, respectively. Possible familial relationships were also investigated.

Results: Complete or partial STR profiles were obtained in 3 of the 7 samples. Mitochondrial DNA haplogroup was determined in 6 samples, with 5 of them corresponding to the haplogroup H and 1 to the haplogroup U5a. Y-chromosome haplogroup was determined in 2 samples, corresponding to the haplogroup R. In one of them, the sub-branch R1b1b2 was determined. mtDNA sequences indicated that some of the individuals could be maternally related, while STR profiles indicated no direct family relationships.

Conclusions: Despite the antiquity of the samples and great difficulty that genetic analyses entail, the combined use of autosomal STR markers, Y-chromosome informative SNPs, and mtDNA sequences allowed us to genotype a group of skeletons from the medieval age.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3118721PMC
http://dx.doi.org/10.3325/cmj.2011.52.336DOI Listing
June 2011

Differences between Spaniards and Ecuadorians in CYP2A6 allele frequencies: comparison with other populations.

Fundam Clin Pharmacol 2011 Oct 17;25(5):627-32. Epub 2011 Mar 17.

Department of Pharmacology, University of Zaragoza, 50009 Zaragoza, Spain.

This study was designed to investigate the potential differences between Spaniards and Ecuadorian Mestizo people regarding CYP2A6*1A, CYP2A6*1B1, CYP2A6*1x2A, CYP2A6*9A, and CYP2A6*4A variant alleles at the CYP2A6 gene and also to compare the observed frequencies with those previously reported in different ethnic groups. DNA from 234 Spaniard and 300 Ecuadorian subjects were analyzed by either PCR or PCR-restriction fragment length polymorphism. Differences between Spaniards and Mestizo Ecuadorians were detected in relation to the frequencies of the alleles linked to either absent enzyme activity, CYP2A6*4A (4 and 7.1%, respectively), or reduced CYP2A6 enzyme activity, CYP2A6*9A (6.4 and 10.3%, respectively). CYP2A6*4A and CYP2A6*9A frequencies in Ecuadorians were higher than those in Africans or Caucasian groups and lower than those in Asians. This study provides, for the first time, the result of the analysis of CYP2A6 allele frequency in a South American population and demonstrates the presence of ethnic differences in CYP2A6 genetic variants between Spaniards and Mestizo Ecuadorians, which should be considered in allele-disease association studies and, in particular, in those involving CYP2A6 genetic polymorphisms and tobacco-related cancer.
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http://dx.doi.org/10.1111/j.1472-8206.2010.00889.xDOI Listing
October 2011

Alcohol-metabolizing enzyme gene polymorphisms in the Basque Country, Morocco, and Ecuador.

Alcohol Clin Exp Res 2011 May 8;35(5):879-84. Epub 2011 Feb 8.

BIOMICs Research Group, Department of Z. and Cell Biology, DNA Bank, University of Basque Country, Spain.

Background: Genes ADH1B and ADH1C have certain functional SNPs that are related to alcoholism. The frequencies of these polymorphisms vary between populations, so studying them in populations made up of groups with different phylogeographic origins requires an individualized analysis of each group. In the Basque Country, various recently arrived foreign groups live side by side with the original Southern European population, particularly North Africans from Morocco and Hispanics from Ecuador. This study sets out to examine the distribution of the frequencies of alleles that encode alcohol dehydrogenase with different metabolization rates, as higher rates make for greater susceptibility to alcoholism.

Methods: Four SNPs: rs1229984, rs2066702, rs698, and rs1693482 using Taqman technology with a Rt-PCR were studied in a sample of 114 European individuals originating from the Basque Country, 100 North Africans from Morocco, and 109 Hispanics from Ecuador. The allele and genotype frequencies were calculated using Genepop v4.0. The most frequent haplotypes were estimated using the ELB algorithm with Arlequin v3.01. A breakdown of the complete disequilibrium commonly observed between the 2 missense polymorphisms that distinguish the common ADH1C alleles rs698 and rs1693482 was observed and confirmed by sequencing in 2 individuals from the Basque Country.

Results: A higher frequency of protective allele ADH1C*1 was found in the North African population group. Haplotype combinations are also studied, and the rare association of alleles ADH1B*2-ADH1C*2 was observed in the Southern European group in the Basque Country, along with an allele not hitherto described in the ADH1C locus.

Conclusions: This study provides the first data published on the allele and genotype frequencies of the ADH1C locus in the Moroccan population and on the ADH1B and ADH1C loci in the Ecuadorian population. The study shows differences in the distribution of the frequency of allele ADH1C*1 between the Basque Country and Moroccan populations, and a new allele not described to date.
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http://dx.doi.org/10.1111/j.1530-0277.2010.01418.xDOI Listing
May 2011

Nuclear DNA typing from ancient teeth.

Am J Forensic Med Pathol 2012 Sep;33(3):211-4

Department of Forensic Medicine, Faculty of Medicine, University of Zaragoza, Zaragoza, Spain.

Because of the adverse effects that diagenesis exert on ancient skeletal remains, DNA from these samples is often compromised to the point where genetic typing can be challenging. Nevertheless, robust and reliable methods are currently available to allow successful genotyping of ancient specimens. Here we report nuclear DNA-based methods and typing strategies used to analyze 2 human skeletons from a medieval burial. Reliable DNA nuclear profiles were obtained from teeth, whereas mitochondrial DNA analyses in bones were inconclusive. A complete nuclear mini short tandem repeat profile was obtained from a well-preserved premolar, but only a partial one from the femur. Increasing the sensitivity of the polymerase chain reaction system allowed a full profile from the latter, but the presence of artifacts reinforced the idea that the interpretation of this kind of analysis must be performed with caution. The results presented here also indicate that DNA from dental pieces can be better preserved than from bones, even in the case of well-preserved long bones with thick cortical tissue such as the femurs, and have a better chance of successful genetic typing, probably because of the high degree of protection conferred to the DNA by the enamel.
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http://dx.doi.org/10.1097/PAF.0b013e3181fe3401DOI Listing
September 2012

Hierarchical Y-SNP assay to study the hidden diversity and phylogenetic relationship of native populations in South America.

Forensic Sci Int Genet 2011 Mar 6;5(2):100-4. Epub 2010 Oct 6.

Department of Forensic Genetics, Institute of Legal Medicine and Forensic Sciences, Charité-Universitätsmedizin Berlin, Germany.

Studying the Y chromosomes of indigenous tribes of Ecuador revealed a lack of strategic SNP assays to examine the substructure of South American native populations. In most studies dealing with South American samples so far only the most common Y-SNP M3 of haplogroup Q was analyzed, because this is known to define a founder group in South America. Studies of SNPs ancestral to Q-M3 (Q1a3a) to confirm the results or the typing of Q subclades have often been neglected. For this reason we developed a SNaPshot assay, which allows first for a hierarchical testing of all main haplogroups occurring in South American populations and second for a detailed analysis of haplogroups Q and C thought having ancient Asian descent. We selected 16 SNPs from the YCC haplogroup tree and established two multiplexes. The first multiplex ("SA Major") includes 12 Y-SNPs defining the most frequent haplogroups occurring in South America (M42, M207, M242, M168, M3, M145, M174, M213, RPS4Y711, M45, P170, and M9). The second multiplex ("SA SpecQ") contains Y-SNPs of haplogroup Q, especially of the subclade Q-M3 (M19, M194, P292, M3, and M199). Within our Ecuadorian sample, haplogroup Q-M3 (xM19, M194, P292, and M199) was predominant, but we also found haplogroup E and R, which can be attributed to recent admixture. Moreover, we found four out of 65 samples, which were tested to be haplogroup C3* (C-M217) the modal haplogroup in Mongolians and widespread in indigenous populations of the Russian Far East as well as in Eastern Asia. This haplogroup is not known to be the result of recent admixture and has been found only one time before in South America. Since haplogroup C occurs in Asia and in North America (C3b or C-P39), we assume that these C-lineages are ancient as well. Therefore, we established a third multiplex ("SA SpecC"), which allows the further subtyping of haplogroup C, mainly of subclade C3 defined by the Y-SNP M217 (M407, M48, P53.1, M217, P62, RPS4Y711, M93, M86, and P39). Altogether, these three multiplexes cover the most frequent haplogroups in South America and allow for a maximal resolution of the Y-chromosomal SNP diversity in Amerindian population samples.
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http://dx.doi.org/10.1016/j.fsigen.2010.08.016DOI Listing
March 2011

Reconstructing the population history of Nicaragua by means of mtDNA, Y-chromosome STRs, and autosomal STR markers.

Am J Phys Anthropol 2010 Dec 18;143(4):591-600. Epub 2010 Aug 18.

Laboratory of Forensic Genetics, Faculty of Medicine, University of Zaragoza, 50009 Zaragoza, Spain.

Before the arrival of the Spaniards in Nicaragua, diverse Native American groups inhabited the territory. In colonial times, Native Nicaraguan populations interacted with Europeans and slaves from Africa. To ascertain the extent of this genetic admixture and provide genetic evidence about the origin of the Nicaraguan ancestors, we analyzed the mitochondrial control region (HVSI and HVSII), 17 Y chromosome STRs, and 15 autosomal STRs in 165 Mestizo individuals from Nicaragua. To carry out interpopulation comparisons, HVSI sequences from 29 American populations were compiled from the literature. The results reveal a close relationship between Oto-manguean, Uto-Aztecan, Mayan groups from Mexico, and a Chibchan group to Nicaraguan lineages. The Native American contribution to present-day Nicaraguan Mestizos accounts for most of the maternal lineages, whereas the majority of Nicaraguan Y chromosome haplogroups can be traced back to a West Eurasian origin. Pairwise Fst distances based on Y-STRs between Nicaragua and European, African and Native American populations show that Nicaragua is much closer to Europeans than the other populations. Additionally, admixture proportions based on autosomal STRs indicate a predominantly Spanish contribution. Our study reveals that the Nicaraguan Mestizo population harbors a high proportion of European male and Native American female substrate. Finally, the amount of African ancestry is also interesting, probably because of the contribution of Spanish conquerors with North African genetic traces or that of West African slaves.
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http://dx.doi.org/10.1002/ajpa.21355DOI Listing
December 2010

[Current status of DNA databases in the forensic field: new progress, new legal needs].

Rev Derecho Genoma Hum 2009 Jul-Dec(31):161-83

Laboratorio de Medicina Forense, Universidad de Zaragoza, Zaragoza, España.

One of the most polemic issues regarding the use of deoxyribonucleic acid (DNA) in the legal sphere, refers to the creation of DNA databases. Until relatively recently, Spain did not have a law to support the establishment of a national DNA profile bank for forensic purposes, and preserve the fundamental rights of subjects whose data are archived therein. The regulatory law of police databases regarding identifiers obtained from DNA approved in 2007, covers this void in the Spanish legislation and responds to the incessant need to adapt the laws to continuous scientific and technological progress.
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July 2010

Y-STR variation among ethnic groups from Ecuador: Mestizos, Kichwas, Afro-Ecuadorians and Waoranis.

Forensic Sci Int Genet 2009 Jun 2;3(3):e83-91. Epub 2008 Oct 2.

Hospital Metropolitano, Quito, Ecuador.

Twelve Y-chromosomal short tandem repeats (STRs) DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385ab, DYS437, DYS438 and DYS439 were studied in the three major ethnic groups from Ecuador: Mestizos, Native Amerindians (Kichwas, Quichuas) and Afro-Ecuadorians aiming to construct a representative database for this region in Latin America. All three populations exhibit high haplotypes diversities. Analysis of molecular variance (AMOVA) reveals significant differentiation between the Mestizos, the Kichwas and the Afro-Ecuadorians. The analysis of a hunter-gatherer group of Native Amerindians from the Amazonian provinces of Ecuador, the Waoranis (Huaorani) revealed markedly reduced haplotypes variability and a large genetic distance to the major Ecuadorian populations.
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http://dx.doi.org/10.1016/j.fsigen.2008.08.003DOI Listing
June 2009