Laura Valverde

University of Münster, Muenster, North Rhine-Westphalia, Germany

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Publications (21)45.75 Total impact

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    ABSTRACT: The standardization of methods for individualizing Cannabis sativa plants could offer new possibilities in the investigation of its illegal trade. Here we present the first nomenclature proposal for 15 cannabis STRs, which allows an initial standardization for performing comparisons between laboratories and generating genotype databases. Several alleles of the 15 STR loci have been sequenced. This has revealed that not all the STR loci are equally suitable for the individualization purposes. Moreover, several nucleotide variations have been detected both inside the repeat structure and/or in the flanking region. All the different SNPSTR haplotypes are presented and compared with the previous sequence raw data of the 15 STR loci. The SNPSTR data could considerably increase the informative value of the STRs, which could be very useful in complex cases.
    Forensic Science International: Genetics 03/2014; 9C:61-65. · 3.86 Impact Factor
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    ABSTRACT: Mitochondrial control region (16024-576) sequences were generated from 180 individuals of four population nuclei from the province of Jujuy (NW Argentina), located at different altitudes above sea level. The frequency at which a randomly selected mtDNA profile would be expected to occur in the general population (random match probability) was estimated at 0.011, indicating a relatively high diversity. Analysis of the haplogroup distribution revealed that Native American lineages A2 (13.9%), B (56.7%), C1 (17.8%), D1 (8.9%) and D4h3a (1.1%) accounted for more than 98% of the total mtDNA haplogroup diversity in the sample examined. We detected a certain degree of genetic heterogeneity between two subpopulations located at different points along the altitudinal gradient (Valles and Puna), suggesting that altitude above sea level cannot be ruled out as a factor promoting divergences in mtDNA haplogroup frequencies, since altitude is closely associated with human living conditions, and consequently, with low demographic sizes and the occurrence of genetic drift processes in human communities. In all, mitochondrial DNA database obtained for Jujuy province strongly points to the need for creating local mtDNA databases, to avoid bias in forensic estimations caused by genetic substructuring of the populations.
    Forensic Science International: Genetics 02/2013; · 3.86 Impact Factor
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    ABSTRACT: The European genetic landscape has been shaped by several human migrations occurred since Paleolithic times. The accumulation of archaeological records and the concordance of different lines of genetic evidence during the last two decades have triggered an interesting debate concerning the role of ancient settlers from the Franco-Cantabrian region in the postglacial resettlement of Europe. Among the Franco-Cantabrian populations, Basques are regarded as one of the oldest and more intriguing human groups of Europe. Recent data on complete mitochondrial DNA genomes focused on macrohaplogroup R0 revealed that Basques harbor some autochthonous lineages, suggesting a genetic continuity since pre-Neolithic times. However, excluding haplogroup H, the most representative lineage of macrohaplogroup R0, the majority of maternal lineages of this area remains virtually unexplored, so that further refinement of the mtDNA phylogeny based on analyses at the highest level of resolution is crucial for a better understanding of the European prehistory. We thus explored the maternal ancestry of 548 autochthonous individuals from various Franco-Cantabrian populations and sequenced 76 mitogenomes of the most representative lineages. Interestingly, we identified three mtDNA haplogroups, U5b1f, J1c5c1 and V22, that proved to be representative of Franco-Cantabria, notably of the Basque population. The seclusion and diversity of these female genetic lineages support a local origin in the Franco-Cantabrian area during the Mesolithic of southwestern Europe, ∼10,000 years before present (YBP), with signals of expansions at ∼3,500 YBP. These findings provide robust evidence of a partial genetic continuity between contemporary autochthonous populations from the Franco-Cantabrian region, specifically the Basques, and Paleolithic/Mesolithic hunter-gatherer groups. Furthermore, our results raise the current proportion (≈15%) of the Franco-Cantabrian maternal gene pool with a putative pre-Neolithic origin to ≈35%, further supporting the notion of a predominant Paleolithic genetic substrate in extant European populations.
    PLoS ONE 01/2013; 8(7):e67835. · 3.73 Impact Factor
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    ABSTRACT: The SNP haplogroups of the Y-chromosome are non-randomly distributed among human populations. They are used for tracing the phylogeographical history of paternal lineages of male individuals and can be a useful tool for approaching the patrilineal bio-geographic ancestry of unknown forensic evidences. With the aim of facilitating the inference of the principal informative worldwide Y-SNPs haplogroups, we have selected the minimum possible number of key Y-SNPs to be amplified in a sensitive single multiplex PCR and detected by minisequencing. This assay, that includes 16 Y-SNPs, was tested for male human specificity, sensitivity and reproducibility. Its effectiveness was assessed in a set of degraded DNA samples and in a panel of male individuals from different worldwide populations. All these tests demonstrated the convenience of this assay for assigning the major Y haplogroups to forensic evidences by one single PCR - minisequencing reaction.
    Electrophoresis 12/2012; · 3.26 Impact Factor
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    ABSTRACT: Ten X chromosome markers (DXS6789, DXS6809, DXS7132, DXS7133, DXS7423, DXS8378, DXS9898, DXS9902, GATA172D05, and GATA31E08) were analyzed in a sample of 185 unrelated autochthonous Basques from Navarre. Deviations from Hardy-Weinberg equilibrium and linkage disequilibrium between markers were not observed at any loci. Combined power of discrimination was 0.999999999 (females) and 0.999998764 (males). Mean exclusion chance was 0.99999463 (trios) and 0.999761591 (duos). Pairwise genetic distances (Fst) of X-STR frequencies indicate significant differences in the allele frequency distribution between the autochthonous Basques from Navarre and American and Iberian populations except with the Basque Country.
    Forensic Science International: Genetics 03/2012; 6(5):e146-8. · 3.86 Impact Factor
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    ABSTRACT: Non autochthonous population is the most numerous group in the Basque Country. This group is named "Residents" to distinguish them from the "Autochthonous Basque" population. In this work, the 17 Y-STR loci distribution of Resident population was studied in a sample of 197 individuals, who were concretely genotyped for DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS439, DYS438, DYS437, DYS448, DYS456, DYS458, DYS635 and Y GATA H4. Resident population showed a high haplotype diversity and discrimination capacity. The distribution of Y-STRs haplotypes of the Resident population was statistically significant different to the one of the Autochthonous Basque population. The genetic substructure found between Resident and Autochthonous Basque 17 Y-STR haplotype distributions advises for the use of two different databases in the Basque Country, to ensure the most trustworthy frequency estimate in casework.
    Forensic Science International: Genetics 02/2012; 6(4):e109-11. · 3.86 Impact Factor
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    ABSTRACT: Mitochondrial control region (16024-576) sequences were generated from 106 samples from autochthonous Basques from the Autonomous Community of the Basque Country. It is especially important to generate mtDNA databases from isolated populations in order to maximize the power of discrimination of this molecular marker. It also represents a useful approach to carry out a more accurate haplogroup classification. This is the first database report of complete control region sequences in an autochthonous Basque population sample. Strict selection criteria of autochthonous individuals, automation of laboratory processing and independent reviews of the raw electropherograms ensure the high quality of these sequences and their utility as reference population data of the autochthonous Basque population.
    Forensic Science International: Genetics 01/2012; 6(4):e106-8. · 3.86 Impact Factor
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    ABSTRACT: South America and especially the Amazon basin is known to be home to some of the most isolated human groups in the world. Here, we report on a study of mitochondrial DNA (mtDNA) in the Waorani from Ecuador, probably the most warlike human population known to date. Seeking to look in more depth at the characterization of the genetic diversity of this Native American tribe, molecular markers from the X and Y chromosomes were also analyzed. Only three different mtDNA haplotypes were detected among the Waorani sample. One of them, assigned to Native American haplogroup A2, accounted for more than 94% of the total diversity of the maternal gene pool. Our results for sex chromosome molecular markers failed to find close genetic kinship between individuals, further emphasizing the low genetic diversity of the mtDNA. Bearing in mind the results obtained for both the analysis of the mtDNA control region and complete mitochondrial genomes, we suggest the existence of a 'Waorani-specific' mtDNA lineage. According to current knowledge on the phylogeny of haplogroup A2, we propose that this lineage could be designated as subhaplogroup A2s. Its wide predominance among the Waorani people might have been conditioned by severe genetic drift episodes resulting from founding events, long-term isolation and a traditionally small population size most likely associated with the striking ethnography of this Amazonian community. In all, the Waorani constitute a fine example of how genetic imprint may mirror ethnopsychology and sociocultural features in human populations.
    Heredity 01/2012; 108(6):609-15. · 4.11 Impact Factor
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    ABSTRACT: Individuals of Basque origin migrated in large numbers to the Western USA in the second half of the nineteenth century, and the flow continued with less intensity during the last century. The European source population, that of the Basque Country, has long been a cultural and geographical isolate. Previous studies have demonstrated that Y-STR frequencies of Basques are different from those of other Spanish and European populations [1]. The Basque diaspora in the Western USA is a recent migration, but the founder effect and the incorporation of new American Y chromosomes into the paternal genetic pool of the Basque diaspora could have influenced its genetic structure and could thus have practical implications for forensic genetics. To check for genetic substructure among the European source and Basque diaspora populations and determine the most suitable population database for the Basque diaspora in the Western USA, we have analysed the haplotype distribution of 17 Y-STRs in both populations. We have found that the Basque diaspora in the Western USA largely conserve the Y chromosome lineage characteristic of the autochthonous European Basque population with no statistically significant differences. This implies that a common 17 Y-STR Basque population database could be used to calculate identification or kinship parameters regardless of whether the Basque individuals are from the European Basque Country or from the Basque diaspora in the Western USA.
    Deutsche Zeitschrift für die Gesamte Gerichtliche Medizin 11/2011; 126(2):293-8. · 2.69 Impact Factor
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    ABSTRACT: Autochthonous Basques are thought to be a trace from the human population contraction that occurred during the Last Glacial Maximum, based mainly on the salient frequencies and coalescence ages registered for haplogroups V, H1, and H3 of mitochondrial DNA in current Basque populations. However, variability of the maternal lineages still remains relatively unexplored in an important fraction of the Iberian Basque community. In this study, mitochondrial DNA diversity in Navarre (North Spain) was addressed for the first time. To that end, HVS-I and HVS-II sequences from 110 individuals were examined to identify the most relevant lineages, including analysis of coding region SNPs for the refinement of haplogroup assignment. We found a prominent frequency of subhaplogroup J1c (11.8%) in Navarre, coinciding with previous studies on Basques. Subhaplogroup H2a5, a putative autochthonous Basque lineage, was also observed in Navarre, pointing to a common origin of current Basque geographical groups. In contrast to other Basque subpopulations, comparative analyses at Iberian and European scales revealed a relevant frequency of subhaplogroup H3 (10.9%) and a frequency peak for U5b (15.5%) in Navarre. Furthermore, we observed low frequencies for maternal lineages HV0 and H1 in Navarre relative to other northern Iberian populations. All these findings might be indicative of intense genetic drift episodes generated by population fragmentation in the area of the Franco-Cantabrian refuge until recent times, which could have promoted genetic microdifferentiation between the different Basque subpopulations.
    American Journal of Physical Anthropology 07/2011; 145(3):480-8. · 2.48 Impact Factor
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    ABSTRACT: Resumen Los diferentes polimorfismos del ADN mitocondrial pueden provocar cambios en la estructura de las proteínas involucradas en la cadena de transporte de electrones y a su vez modificar el funcionamiento o eficiencia de una de las principales funciones de la mitocondria, la fosforilación oxidativa. Esto ha sido relacionado con numerosas enfermedades. En este trabajo presentamos un nuevo procedimiento basado en la medida combinada de tres parámetros indicadores del estado energético mitocondrial, el potencial de membrana, la producción de anión superóxido y los niveles de ATP. La evaluación conjunta de estos parámetros permite inferir la funcionalidad de la cadena de transporte de electrones mitocondrial, y por tanto, son buenos indicadores de la eficiencia energética de la misma. Se han realizado ensayos de reproducibilidad en las medidas de estos tres parámetros in vivo y en cultivo, concluyendo que las medidas en cultivo muestran una reproducibilidad mucho más adecuada para llevar a cabo estimas de eficiencia energética. Además, la posibilidad de un control riguroso de los factores exógenos bajo cultivo permite estimar también los cambios en el metabolismo mitocondrial tras el sometimiento de un cultivo a condiciones como respuesta a fármacos, escasez de alimentos,…Así, esta metodología permite realizar un ensayo individualizado de la eficiencia del metabolismo energético mitocondrial, cuya importancia está en constante aumento por su implicación en numerosos estados patógenos.
    Antropo. 01/2011; 25:1-9.
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    ABSTRACT: The state of Santa Catarina (Brazil) is known to have represented a cultural crossroads in South America due to several historic migrations mainly from Europe and Africa. We set out to scrutinize whether the genetic imprint of these migrations could be traced through analysis of the matrilineal gene pool of the Catarinenses. The entire control region of the mitochondrial DNA was studied in 80 healthy and maternally unrelated individuals. The analysis of haplogroup distribution revealed that this population is extremely heterogeneous, showing the coexistence of matrilineal lineages with three different phylogeographic origins. European lineages are the most frequent due mainly to the impact of relatively recent migratory waves from Europe. In spite of this, Native American lineages and African lineages incorporated with the slave trade are also present in noticeable proportions. The strikingly high variability generated by intense gene flow is mirrored in a high sequence diversity (0.9930) and power of discrimination (0.9806). Thus, analysis of the entire mitochondrial DNA control region emerges as a valuable tool for forensic genetic purposes in this highly admixed population, an attribute common to several present-day Latin American populations.
    Deutsche Zeitschrift für die Gesamte Gerichtliche Medizin 07/2010; 124(4):331-6. · 2.69 Impact Factor
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    ABSTRACT: In this study, we analyzed the entire mtDNA control region in 61 unrelated individuals from the Pas Valley (Cantabria), a human isolate from northern Spain, to evaluate the suitability of this analysis to increase the power of discrimination of this locus for forensic purposes in human isolates. Low values obtained for the diversity parameters confirmed the relative isolation of this human group. The main findings of this study indicated that even the analysis of the entire mtDNA control region may have important limitations for use in forensic casework when dealing with human isolates: none of the 44 individuals who exhibited identical HVI-HVII haplotypes could be further differentiated by analysis of segment HVIII. Nevertheless, analysis of the entire mtDNA control region proved to be useful to determine the ancestry of the samples examined, by contributing to the confirmation, and, on occasion, even to the refinement of the haplogroup assignment.
    Journal of Forensic Sciences 04/2010; 55(5):1196-201. · 1.24 Impact Factor
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    ABSTRACT: The field of Biobanking requires extensive work to maintain traceability of samples. However, sometimes the necessity to authenticate a sample may arise. To address these circumstances, we herein present a method for authenticating derivatives by using a blood spot from each donor, attached to a sample authentication form, by means of genetic profiling. Blood spots are collected at the time a blood sample is donated at a health centre and before processing the blood sample at the biobank. To test the validity of our approach over time, we analyzed 26 blood spots stored at room temperature in our facilities for more than 15 years. DNA was successfully extracted from the three storage materials tested in this study and 15 STR markers plus amelogenin were subsequently analyzed. The storage of a small blood spot attached to a sample authentication form proved to be efficient for genetic profiling and, therefore, may constitute a long-lasting (at least 15 years), cost-effective and effortless approach for genetic authentication of samples in biobanks.
    European journal of human genetics: EJHG 03/2010; 18(7):848-51. · 3.56 Impact Factor
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    ABSTRACT: Single nucleotide polymorphisms (SNPs) in the flanking regions of microsatellite loci (SNPSTRs) help to increase the power of discrimination of short tandem repeat (STR) loci. SNPs are positions in the genome that have been well-conserved over the course of evolution, so analysing them can help distinguish between STR alleles in which the number of repetitions matches due to descent from those which match by chance. This provides support for the determination of biological paternity and other kinship analyses in which mutation needs to be ruled out as grounds for exclusion. Locus D7S820 shows a variable position, SNP rs59186128, in the 5' flanking region. This study is set out (1) to determine the frequencies of SNP rs59186128 in populations with various geographical origins and (2) to estimate the possible contribution of rs59186128 to the allele discrimination of locus D7S820. To that end, individuals from European Caucasoid, Hispanic, and Afro-American populations are studied using denaturing high-performance liquid chromatography, which enables locus rs59186128 to be quickly and highly cost-effectively screened. Moreover, a method is established for determining the haplotypes of SNPSTR rs59186128_D7820. The results show that SNP rs59186128 has a T allele frequency of more than 0.15 in one of the Afro-American populations studied, and the haplotype analysis shows that there is no preferential association between the alleles of SNPSTR rs59186128_D7S820, which supports the idea that they could be useful in forensic applications.
    Deutsche Zeitschrift für die Gesamte Gerichtliche Medizin 09/2009; 123(6):527-33. · 2.69 Impact Factor
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    ABSTRACT: The study of the hypervariable segments HVS-I and HVS-II of the mitochondrial DNA (mtDNA) control region of 80 healthy and maternally unrelated individuals revealed that the population from Santa Catarina is extremely heterogeneous, mainly due to the impact of relatively recent migratory waves from Europe. In spite of this, Native American lineages as well as African lineages incorporated much earlier are also present at noticeable proportions. This strikingly high variability generated by the intense gene flow is mirrored in a high power of discrimination (97.69%), which makes the analysis of mitochondrial HVS-I and HVS-II segments very useful for forensic genetic purposes in this Brazilian population.
    Forensic Science International Genetics Supplement Series 01/2009; 2(1):338-339.
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    ABSTRACT: The province of Jujuy is located in northwestern Argentina. We analyzed mitochondrial DNA (mtDNA) haplogroup composition in 100 autochthonous individuals living at altitudes between 1200 and 3500m above sea level, in San Salvador de Jujuy, Quebrada de Humahuaca and Puna. The purpose was to explore the influence of non-Native American maternal lineages. Additionally, we evaluated the efficacy of analyzing the entire mtDNA control region to increase its power of discrimination with forensic purposes. Results showed that the population sample was entirely composed by Native American haplogroups, with haplotypes belonging to haplogroup B as the most common lineages. Analysis of the entire mtDNA D-loop region proved to be useful to increase the power of discrimination provided by the analysis of HVS-I and HVS-II segments and to refine haplogroup assignment.
    Forensic Science International Genetics Supplement Series 01/2009; 2(1):340-341.
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    ABSTRACT: In this study, we analyzed the HVS-III region of the mitochondrial DNA in 61 maternally unrelated individuals from the Pas Valley (Cantabria), a human isolate from northern Spain whose HVS-I and HVS-II segments were also analyzed. Our results demonstrated that even the analysis of the three hypervariable segments of the mtDNA control region might constitute a limited approach for forensic purposes in human isolates. Nevertheless, polymorphic positions of HVS-III may be useful to confirm and refine the haplogroup assignment.
    Forensic Science International Genetics Supplement Series 01/2009; 2(1):336-337.
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    ABSTRACT: Cytochrome b was used to determine the origin of hair traces contaminating food served in a hospital from the Basque Country. The same sequence was obtained for the three hairs subjected to analysis. This sequence matched exactly that for Bos taurus (cattle) contained in the GenBank database.
    Forensic Science International Genetics Supplement Series 01/2008; 1(1):589-590.
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    ABSTRACT: The Huaorani constitute the last nomadic people of hunters-gatherers in Ecuador. With the aim of contributing to a better understanding of the complex genetic map of Native Americans, we analyzed control region of the mitochondrial DNA. Due to polymorphisms 16293G, 16304C, 189G and 207A, a new possible subcluster for haplogroup A2 is reported herein.
    Forensic Science International Genetics Supplement Series 01/2008; 1(1):269-270.