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Aims: Microalgae are ubiquitous in aquatic environments, including aquaculture farms, but few studies have delved into their phytoplankton diversity and bioremediation potential. In this study, the cultivable phytoplankton of a rainbow trout freshwater aquaculture farm was isolated, phylogenetically analysed and used to assemble a consortium to polish an aquaculture‐derived effluent, with low concentrations of ammonium, nitrite and nitrate. Methods and Results: Through standard plating in different selective media, a total of 15 microalgae strains were isolated from sludge from a rotary drum filtering system which removes suspended solids from the water exiting the facility. Based on 18S rRNA gene sequences, isolates were assigned to nine different genera of the Chlorophyta phylum: Asterarcys, Chlorella, Chloroccocum, Chlorosarcinopsis, Coelastrella, Desmodesmus, Micractinium, Parachlorella and Scenedesmus. Species from most of these genera are known to inhabit freshwater systems in Galicia and continental Spain, but the Coelastrella, Asterarcys or Parachlorella genera are not usually present in freshwater streams. In an onsite integrative approach, the capacity of a consortium of native microalgae isolates to grow on aquaculture‐derived effluents and its nutrient removal capacity were assessed using a raceway pond. After 7 days, removal efficiencies of approximately 99%, 92% and 49% for ammonium, nitrite and nitrate, respectively, were achieved concomitantly with a microalgae biomass increase of ca. 17%. Conclusions: Sludge from the aquaculture filtering system presents a high diversity of microalgae species from the Chlorophyta phylum, whose application in a consortial approach revealed to be efficient to polish aquaculture‐derived effluents with low nutrient content. Significance and Impact of the Study: The use of native microalgae consortia from aquaculture systems can contribute to the development of efficient treatment systems for low‐nutrient wastewater, avoiding nutrients release to the environment and promoting water recirculation. This may further strengthen the use of phycoremediation at the industrial scale, as an environment‐friendly strategy. [ABSTRACT FROM AUTHOR]

Copyright of Tourism & Management Studies is the property of Escola Superior de Gestao, Hotelaria e Turismo, Universidade do Algarve and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

This study explores trade union influence over human resource management (HRM) practices in Spanish and Brazilian organizations using the Cranet 2014 dataset. While some of the existing data suggest that trade unions may hold little power within surveyed organizations, we offer additional evidence contradicting this. Trade unions' influence is better understood when taking into account the industrial relations systems of Spain and Brazil, as well as their historical evolution. Understanding such evolution helps us account for similarities and differences observed in the way trade unions influence HRM in these two countries. [ABSTRACT FROM AUTHOR]

The main objective of this work is to analyze the resurgence of the costumbrista genre in Spain during the 1960s, when reports of daily scenes and portraits of urban characters started to be accompanied by documentart photographs. In this period, the relationship between the literary text and the photography was widely developed through the publication of a series of booklets, both in Spain and in Latin America. The main corpus of this research is the new book Nuevas escenas matritenses, which brings together photographs by Enrique Palazuelo and texts by Camilo José Cela. In this work, the approximation between word and image either enhaces the storytelling process or generates tension between the two media. In order to carry out this analysis, we resorted to the reflections of Joan Fontcuberta and André Rouillé on the limits and transformative power of photographic realism, as well as to the observations of Christoph Rodiek on the work of Camilo José Cela and Karl Erik Schøllhammer about the relations between word and image. [ABSTRACT FROM AUTHOR]

• Physical activity is recommended in clinical guidelines for chronic low back pain. • Guidelines are silent in regards to which types of physical activity. • Leisure physical activity appears to be protective to low back pain. • Occupational physical activity appears to be harmful to low back pain. Low back pain is a highly prevalent and disabling musculoskeletal disorder. Physical activity is widely used as a prevention strategy for numerous musculoskeletal disorders; however, there is still conflicting evidence as to whether physical activity is a protective or risk factor for low back pain or whether activity levels differ between people with and without low back pain. To investigate the association between low back pain and different types (occupational and leisure) and intensities (moderate and vigorous) of physical activity. This is cross-sectional observational study. We included in this study a total of 1059 individuals recruited from a Spanish twin registry with data available on low back pain. Outcome: Self-reported leisure and occupational physical activity were the explanatory variables. The low back pain outcome used in this study was recurrent low back pain. Our results indicate that leisure physical activity is associated with a lower prevalence of recurrent low back pain. In contrast, occupational physical activity, such as carrying, lifting heavy weight while inclined, awkward postures (e.g. bending, twisting, squatting, and kneeling) are associated with a higher prevalence of recurrent low back pain. There was no statistically significant association between other occupational physical activities, such as sitting or standing, and low back pain. Leisure and occupational physical activity are likely to have an opposed impact on low back pain. While leisure physical activity appears to be protective, occupational physical activity appears to be harmful to low back pain. Future longitudinal studies should assist in formulating guidelines addressing specific types and intensity of physical activity aimed at effectively preventing low back pain. [ABSTRACT FROM AUTHOR]

Background: The relationship between sedentary lifestyle and low back pain (LBP) remains unclear and previous research has not accounted for genetic and early environmental factors.Purpose: Our aim was to investigate if sedentary behavior is associated with the lifetime prevalence of persistent LBP and the risk of developing persistent LBP, care-seeking due to LBP, and activity limiting LBP when genetics and early environmental factors are accounted for.Study Design: Both cross-sectional and longitudinal designs with a within-pair twin case-control were implemented.Patient Sample: There were 2,148 twins included in the cross-sectional analysis whereas 1,098 twins free of persistent LBP at baseline were included in the longitudinal analysis.Outcome Measures: Sedentary behavior was the explanatory variable. Lifetime prevalence of LBP was the outcome variable in the cross-sectional analysis. The incidence of persistent LBP, care-seeking due to LBP, and activity limiting LBP were the outcome variables for the longitudinal analysis.Methods: This observational study was supported by a grant in 2012. No competing interests were declared.Results: In the cross-sectional analysis, sedentary behavior was slightly associated with an increased prevalence of persistent LBP in females but not in males. This association was not apparent when genetics and early environmental factors were accounted for. We acknowledge that the small sample included in the co-twin analyses have yielded wide confidence intervals, and that caution should be exercised when interpreting and an association may not be ruled out. In the longitudinal analysis, sedentary behavior did not significantly increase the risk of persistent LBP, care-seeking due to LBP, or activity limiting LBP.Conclusions: Sedentary behavior is associated with concurrent LBP. However, this association is weak; it only appears in females and decreases when accounting for genetics. Future studies using a twin design with larger samples should be conducted to further test these findings. [ABSTRACT FROM AUTHOR]

El artículo trata Ley española 6/2007, de 12 de abril, de reforma de la Ley 24/1988, de 28 de julio, del Mercado de Valores, para la modificación del régimen de las ofertas públicas de adquisición y de la transparencia de los emisores. Informa que la ley armoniza las normas españolas con las de la Unión Europea en la materia.

Purpose: To evaluate the perception of light disturbances (LD) in children wearing Dual Focus (DF) MiSight® contact lenses (CLs) for myopia control compared with children wearing single vision spectacles (SV).Methods: This was a randomized, controlled clinical trial involving subjects aged 8-12 with myopia of -0.75 to -4.00D and astigmatism <1.00D allocated to MiSight® study CLs group or control group wearing SV. LD was determined at baseline, 12 and 24 months visit with a validated device, Light Disturbance Analyzer (LDA) to determine the shape, size and regularity of the LD phenomena with parameters of Light Disturbance Index (LDI) Best Fit Circle (BFC) and Standard Deviation between LD and BFC (BFCIrreg.SD).Results: 74 children completed the study, 41 in the CL group and 33 in the SV group. SV group didn´t show any significant differences between monocular and binocular LD measurements throughout the study. Binocular BFCRadius was smaller at 24 months visit compared with 12 month visit (p < 0.05) and for BFCIrreg.SD was significantly smaller at 24 month visit compared with baseline (p < 0.05). In MiSight® group, binocular and monocular LDI, BFCRadius and BFCIrreg.SD measurements didn't show any significant change between 12 and 24 month visits (p > 0.05). However, monocular BFCIrreg. as well as monocular and binocular BFCIrreg.SD showed a significant decrease at 24 month visit compared with 12 month visit.Conclusions: DF lenses increase the monocular light disturbance perception compared with a single vision spectacle correction. However, this effect decreased over the follow-up time and presented a significant binocular attenuation effect. [ABSTRACT FROM AUTHOR]

Abstract: A tetraplex system for the X chromosome genetic markers DXS7423, DXS101, DXS8377 and HPRTB (human phosphoribosyl transferase) was optimized in a single PCR reaction. These short tandem repeat (STR) markers were typed for 65 individuals (29 female and 36 male samples) from a Galician population sample (Northern Spain). Allele frequencies were estimated for all loci. Optimization of STR multiplexes is a practical and simple method to obtain large amounts of information important in forensic and population genetic studies, therefore, in this context, they should be the tool of approach for X-STR studies. [Copyright &y& Elsevier]

The Iberian peninsula is a peripheral region of Europe in close proximity to Africa. Its inhabitants have an overall mtDNA genetic landscape typical of European background, although with signs of some African influence, whose features we deemed to disclose by analyzing available mtDNA HVRI distributions and new data. We analyzed 1,045 sequences. The most relevant results are the following: (1) North African sequences (haplogroup U6) present an overall frequency of 2.39%, and sub-Saharan sequences reach 3.83%, values that are, in both cases, much higher than those generally observed in Europe; and (2) there is a substantial geographic heterogeneity in the distribution of these lineages (haplogroup L being the most frequent in the south, whereas haplogroup U6 is generally more common in the north). The analysis of the observed diversity within each haplogroup strongly suggests that both were recently introduced (in historical times). Although for haplogroup U6 the documented event that is demographically compatible is the Islamic period (beginning of the 8th century to the end of the 15th century), for haplogroup L the most probable origin is the modem slave trade (mid 15th century to the end of the 18th century). However, the observed geographic structuring for one of the haplogroups does not fit the expected distribution provided by simplistic historical considerations. In fact, although for haplogroup L the north-south increasing frequency is corroborated by historical data, the opposite trend, observed for haplogroup U6, is more difficult to reconcile with the magnitude and time span of the Islamic political and cultural influence, which lasted longer and was more intense in the south. To clarify this conundrum, we need not only a substantial increase in the amount of mtDNA data (particularly for North Africa) but also new historical data and interpretations. [ABSTRACT FROM AUTHOR]

The study of epibenthic assemblages of harmful dinoflagellates (BHABs) is commonly conducted in shallow infralittoral zones (0 - 5 m) and are seldom investigated at deeper waters. In this study, the distribution with depth of five BHAB genera (Gambierdiscus, Ostreopsis, Prorocentrum, Coolia and Amphidinium) was investigated in the south of El Hierro island (Canary Islands, Spain). Sampling involved the use of a standardized artificial substrate deployed at three depth levels (5, 10 and 20 m) that were visited at three different times throughout one year. The influence of three depth-correlated abiotic parameters, i.e. light, water motion and water temperature, on the vertical and seasonal distribution of the BHAB assemblage was also assessed. Two vertical distribution patterns were observed consistently through time: cell abundances of Ostreopsis and Coolia decreased from 5 to 20 m while those of Gambierdiscus, Prorocentrum and Amphidinium showed the reverse pattern, although significant differences were only observed between 5 and 10 - 20 m depth. In April, two members of the latter group, Gambierdiscus and Amphidinium, were even absent at 5 m depth. The recorded environmental parameters explained a high percentage of the observed distribution. In particular, model selection statistical approaches indicated that water motion was the most significant parameter. An analysis of Gambierdiscus at species level revealed the co-occurrence of four species in the study area: G. australes, G. belizeanus, G. caribaeus and G. excentricus. The species G. excentricus, reported here for the first time in El Hierro, showed a more restricted vertical and seasonal distribution than the other species, which may explain not being detected in previous studies in the area. The results obtained in this study highlight the importance of considering a wider depth range and different seasons of the year when investigating the ecology of BHABs and assessing their risk and impacts on human health and the environment. Only then, efficient monitoring programs will be implemented in the Canary Islands and globally in areas affected by these events., (Copyright © 2022. Published by Elsevier B.V.)

Chuetas are a group of descendants of Majorcan Crypto-Jews (Balearic Islands, Spain) who were socially stigmatized and segregated by their Majorcan neighbours until recently; generating a community that, although after the seventeenth century no longer contained Judaic religious elements, maintained strong group cohesion, Jewishness consciousness, and endogamy. Collective memory fixed 15 surnames as a most important defining element of Chueta families. Previous studies demonstrated Chuetas were a differentiated population, with a considerable proportion of their original genetic make-up. Genetic data of Y-chromosome polymorphism and mtDNA control region showed, in Chuetas' paternal lineages, high prevalence of haplogroups J2-M172 (33%) and J1-M267 (18%). In maternal lineages, the Chuetas hallmark is the presence of a new sub-branching of the rare haplogroup R0a2m as their modal haplogroup (21%). Genetic diversity in both Y-chromosome and mtDNA indicates the Chueta community has managed to avoid the expected heterogeneity decrease in their gene pool after centuries of isolation and inbreeding. Moreover, the composition of their uniparentally transmitted lineages demonstrates a remarkable signature of Middle Eastern ancestry-despite some degree of host admixture-confirming Chuetas have retained over the centuries a considerable degree of ancestral genetic signature along with the cultural memory of their Jewish origin.

The suitability of the 'artificial substrate' method, i.e. standardized surfaces of fiberglass screens, for the quantification of four benthic harmful algal bloom (BHAB) dinoflagellates (Gambierdiscus, Ostreopsis, Prorocentrum and Coolia) was tested relative to estimates from natural macroalgal substrates. Sampling took place in a variety of intertidal and subtidal coastal habitats under different water motion conditions, at depths from 1 to 7 m, in two archipelagos of the Macaronesia region: The Canary Islands and Cape Verde. An immersion time of 24 h was sufficient to adequately estimate dinoflagellate abundances. Seven replicates were established as the ideal replication level, considering both reproducibility and sampling effort. In most cases, cell abundances of the four dinoflagellate genera showed lower variability on artificial substrates than on macroalgae, leading to more reliable estimates of abundances. The ratio of mean cell abundances on artificial substrates to mean cell abundances on macroalgae highly varied among sampling sites for each genus. This was especially true for Ostreopsis and Coolia. Thus, given the potentially harmful nature of benthic dinoflagellates, the transformation of abundances expressed as cells g -1 of macroalgae to abundances expressed as cells cm -2 is risky, and it should not be attempted in monitoring and management programs of harmful microalgae. In summary, results of this study support the use of artificial substrates in monitoring programs of BHAB dinoflagellates, while the risks of using macroalgae are stressed., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Background: The origin and prevalence of the prehispanic settlers of the Canary Islands has attracted great multidisciplinary interest. However, direct ancient DNA genetic studies on indigenous and historical 17th-18th century remains, using mitochondrial DNA as a female marker, have only recently been possible. In the present work, the analysis of Y-chromosome polymorphisms in the same samples, has shed light on the way the European colonization affected male and female Canary Island indigenous genetic pools, from the conquest to present-day times., Results: Autochthonous (E-M81) and prominent (E-M78 and J-M267) Berber Y-chromosome lineages were detected in the indigenous remains, confirming a North West African origin for their ancestors which confirms previous mitochondrial DNA results. However, in contrast with their female lineages, which have survived in the present-day population since the conquest with only a moderate decline, the male indigenous lineages have dropped constantly being substituted by European lineages. Male and female sub-Saharan African genetic inputs were also detected in the Canary population, but their frequencies were higher during the 17th-18th centuries than today., Conclusion: The European colonization of the Canary Islands introduced a strong sex-biased change in the indigenous population in such a way that indigenous female lineages survived in the extant population in a significantly higher proportion than their male counterparts.

In a collaborative work carried out by the Spanish and Portuguese ISFG Working Group (GEP-ISFG), a polymerase chain reaction multiplex was optimized in order to type ten X-chromosome short tandem repeats (STRs) in a single reaction, including: DXS8378, DXS9902, DXS7132, DXS9898, DXS6809, DXS6789, DXS7133, GATA172D05, GATA31E08, and DXS7423. Using this X-decaplex, each 17 of the participating laboratories typed a population sample of approximately 200 unrelated individuals (100 males and 100 females). In this work, we report the allele frequencies for the ten X-STRs in 15 samples from Argentina (Buenos Aires, Córdoba, Río Negro, Entre Ríos, and Misiones), Brazil (São Paulo, Rio de Janeiro, Paraná, and Mato Grosso do Sul), Colombia (Antioquia), Costa Rica, Portugal (Northern and Central regions), and Spain (Galicia and Cantabria). Gene diversities were calculated for the ten markers in each population and all values were above 56%. The average diversity per locus varied between 66%, for DXS7133, and 82%, for DXS6809. For this set of STRs, a high discrimination power was obtained in all populations, both in males (> or =1 in 5 x 10(5)) and females (> or =1 in 3 x 10(9)), as well as high mean exclusion chance in father/daughter duos (> or =99.953%) and in father/mother/daughter trios (> or =99.999%). Genetic distance analysis showed no significant differences between northern and central Portugal or between the two Spanish samples from Galicia and Cantabria. Inside Brazil, significant differences were found between Rio de Janeiro and the other three populations, as well as between São Paulo and Paraná. For the five Argentinean samples, significant distances were only observed when comparing Misiones with Entre Ríos and with Río Negro, the only two samples that do not differ significantly from Costa Rica. Antioquia differed from all other samples, except the one from Río Negro.

A collaborative work was carried out by the Spanish and Portuguese International Society for Forensic Genetics Working Group in order to extend the existing data on Y-short tandem repeat (STR) mutations at the 17 Y chromosome STR loci included in the AmpFlSTR YFiler kit (Applied Biosystems): DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, and GATA H4.1. In a sample of 701 father/son pairs, 26 mutations were observed among 11,917 allele transfers across the 17 loci. After summing previously reported mutation data with our sample, mutation rates varied between 4.25 x 10(-4) (95% CI 0.05 x 10(-3)-1.53 x 10(-3)) at DYS438 and 6.36 x 10(-3) (95% CI 2.75 x 10(-3)-12.49 x 10(-3)) at DYS458. All mutations were single step, and mutations in the same father/son pair were found twice.

In this work, we present population genetic data of 10 X-chromosome STRs (DXS8378, DXS9898, DXS8377, HPRTB, GATA172D05, DXS7423, DXS6809, DXS7132, DXS101 and DXS6789) obtained from sample of 145 unrelated female individuals belonging to Valencia (Spain), a region located in the east of the Iberian Peninsula. All the markers studied present high genetic diversities, similar to those previously reported in other European population samples. No deviations from Hardy-Weinberg equilibrium were observed, with the exception of DXS101 locus. Allele frequencies and parameters of forensic interest for each X-STR were calculated. High mean exclusion chance and power of discrimination values were obtained by combining these 10 X-linked markers. Population comparisons (exact test of population differentiation; pairwise genetic distances) were carried out and low genetic distances were found between our sample and those from other Spanish or European regions.

Highly adaptable and versatile populations of domestic sheep, the result of millennia of intense husbandry, are found in almost every corner of the world. Here we describe a genetic survey of sheep from the western fringe of its European distribution. We studied the mitochondrial DNA control region sequences from 161 individuals belonging to 7 Portuguese sheep breeds. Our study revealed a high level of genetic diversity, with an average breed haplotype diversity of 0.983, substantially above that observed in central European breeds, as well as the presence of maternal lineages until now only found in the Middle East and Asia. A broad north-south pattern describes the most important trend in the Portuguese sheep population with a southern population clearly distinct from most other breeds. A recurrent influx of new genetic diversity, probably via the Mediterranean Sea, may explain these patterns and appears to corroborate the importance of this maritime route in the history of both mankind and livestock. Zooarchaeological studies of sheep bones from southern Portugal indicate a marked size increase during the Moslem period that may reflect an improvement of this animal--perhaps part of the well known "Arab agricultural revolution" in Andalusia. This could have been a time when the gene pool of Iberian sheep was substantially enriched and may help to explain the history of modern sheep breeds in this peninsula.

Nine Y-STR loci from the "minimal haplotype" included in Y-STR Haplotype Reference Databases (YHRD) together with eight additional Y-STRs (DYS437, DYS438, DYS439, DYS460, DYS461, GATA C4, GATA H4 and GATA A10) were analyzed in a sample of 101 males from Equatorial Guinea living in Madrid. Haplotype and allelic frequencies were calculated and genetic diversities were estimated for each genetic system as well as for the whole haplotype. An unexpected high frequency (6%) of intermediate alleles (13.2 and 14.2) was found in DYS385. For DYS19, two alleles were found in one sample. Another sample failed to amplify with DYS393 primers using either PowerPlex Y System (Promega Corporation) or the Y-PLEXtrade mark 12 (Reliagene, New Orleans, LA) commercial kits. Comparison between Equatorial Guinea and another African population (Mozambique; South East Coast) revealed a significant pairwise Phi(st) value between them (Phi(st)=0.03309; P=0.00000).

We present allele frequencies and forensic parameters for 17 STRs included in the AmpFlSTR Identifiler (CSF1PO, D2S1338, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D19S433, D21S11, FGA, TH01, TPO and VWA) and Powerplex 16 System (CSF1PO, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, FGA, Penta D, Penta E, TH01, TPO and VWA) in a sample of 134 unrelated individuals from Equatorial Guinea located in Western Africa, between Cameroon and Gabon. Hardy-Weinberg equilibrium was tested for each locus and the sample was compared with five African databases: Promega's and AB Applied Biosystems African-Americans and samples from Mozambique, from Cabinda (Angola) and Guinea-Bissau.

The advent of complete mitochondrial DNA (mtDNA) sequence data has ushered in a new phase of human evolutionary studies. Even quite limited volumes of complete mtDNA sequence data can now be used to identify the critical polymorphisms that define sub-clades within an mtDNA haplogroup, providing a springboard for large-scale high-resolution screening of human mtDNAs. This strategy has in the past been applied to mtDNA haplogroup V, which represents <5% of European mtDNAs. Here we adopted a similar approach to haplogroup H, by far the most common European haplogroup, which at lower resolution displayed a rather uninformative frequency distribution within Europe. Using polymorphism information derived from the growing complete mtDNA sequence database, we sequenced 1580 base pairs of targeted coding-region segments of the mtDNA genome in 649 individuals harboring mtDNA haplogroup H from populations throughout Europe, the Caucasus, and the Near East. The enhanced genealogical resolution clearly shows that sub-clades of haplogroup H have highly distinctive geographical distributions. The patterns of frequency and diversity suggest that haplogroup H entered Europe from the Near East approximately 20,000-25,000 years ago, around the time of the Last Glacial Maximum (LGM), and some sub-clades re-expanded from an Iberian refugium when the glaciers retreated approximately 15,000 years ago. This shows that a large fraction of the maternal ancestry of modern Europeans traces back to the expansion of hunter-gatherer populations at the end of the last Ice Age.

Population frequencies for the eight Y-STR loci included in the "minimal haplotype" from Y-STR Haplotype Reference Database (YHRD) plus other eight Y-STRs (DYS434, DYS435, DYS436, DYS437, DYS438, DYS439, GATA H4 and GATA A10) were obtained for a sample of 133 males from four main geographical areas in the Pyrenees (Spain): Vall D'Aran (Lérida), Cerdanya (Gerona), Alt Urgell (Lérida) and Jacetania (Huesca). Haplotype diversities were estimated in the four populations.

We have studied the matrilineal genetic composition of the Madeira and Açores north Atlantic archipelagos, which were settled by the Portuguese in the 15th century. Both archipelagos, and particularly Madeira, were involved in a complex commercial network established by the Portuguese, which included the trading of slaves across the Atlantic. One hundred and fifty-five mtDNAs sampled from the Madeira and 179 from the Açores archipelagos were analysed for the hypervariable segment I (HVS-I), and for haplogroup-diagnostic coding-region RFLPs. The different settlement histories of both groups of islands are well reflected in their present day mtDNA pool. Although both archipelagos show identical diversity values, they are clearly different in their haplogroup content. Madeira displays a stronger sub-Saharan imprint, with haplogroups L1-L3 constituting about 13% of the lineages. Also, the relative frequencies of L sub-clusters in Madeira and mainland Portugal suggests that, at least in part, African presence in Madeira can be attributed to a direct gene flow from West Africa and not via Portugal. A comparison of the genetic composition of these two archipelagos with the Canary Islands, specially taking into account that their European source population was essentially from the Iberian Peninsula, testifies the stronger impact of the North African U6 cluster in the Canaries. This group is present in Madeira at a moderate frequency, but very reduced in the Açores. Nevertheless the recorded introduction of Canary native Guanches, who are characterized by the presence of particular sub-clade U6b1, has left no detectable imprints in the present day population of Madeira.

DNA typing of 8 recently described STRs on the Y chromosome was carried out by means of 2 multiplex amplification reactions for 134 unrelated males from Cantabria, a region in northern Spain. Multiplex 1 included loci DYS460 (GATA A7.1), GATA A10, GATA H4 and DYS439; multiplex 2 included DYS461 (GATA A7.2), GATA C4, DYS437 and DYS438. Haplotype diversity was found to be 99.36%, similar to that obtained with the standard 9-STR set ("minimal haplotype") of the European Y-user group (99.35%). The 13-locus haplotype resulting from the combination of the standard minimal haplotype and the 4-locus multiplex 1 showed a 99.89% diversity. Further inclusion of the 4 loci in multiplex 2 resulted in a haplotype diversity of 99.93%. The combination of the "minimal haplotype" and the multiplex 1 in the present study may be an efficient way of increasing the power of discrimination in forensic cases.

The Spanish and Portuguese ISFG Working Group (GEP-ISFG) carried out a collaborative exercise in order to asses the performance of two Y chromosome STR tetraplexes, which include the loci DYS461, GATA C4, DYS437 and DYS438 (GEPY I), and DYS460, GATA A10, GATA H4 and DYS439 (GEPY II). The groups that reported correct results in all the systems were also asked to analyse a population sample in order to evaluate the informative content of these STRs in different populations. A total of 1020 males out of 13 population samples from Argentina, Brazil, Costa Rica, Macao, Mozambique, Portugal and Spain were analysed for all the loci included in the present study. Haplotype and allele frequencies of these eight Y-STRs were estimated in all samples. The lowest haplotype diversity was found in the Lara (Argentina) population (95.44%) and the highest (99.90%) in Macao (China). Pairwise haplotype analysis showed the relative homogeneity of the Iberian origin samples, in accordance with what was previously found in the European populations for other Y-STR haplotypes (http://www.ystr.org). As expected, the four non-Caucasian samples, Macao (Chinese), Mozambique (Africans), Costa Rica (Africans) and Argentina (Lara, Amerindians), show highly significant Phist values in the pairwise comparisons with all the Caucasian samples.

A collaborative exercise was carried out by the Spanish and Portuguese ISFG Working Group (GEP-ISFG) in order to evaluate the performance of two Y-chromosome STR PCR tetraplexes, which include the loci DYS461, GATA C4, DYS437 and DYS438 (GEPY I), and DYS460, GATA A10, GATA H4 and DYS439 (GEPY II). The participating laboratories were asked to type three samples for the eight markers, using a specific amplification protocol. In addition, two control samples, with known haplotypes, were provided. The results obtained by the 13 different participating laboratories were identical, except for two laboratories that failed to type correctly the same two samples for GATA C4. By sequence analyses, two different GATA C4 allele structures were found. One control sample (allele 21) and two questioned samples (allele 22, correctly typed by all the laboratories, and allele 25) presented the following repeat structure: (TCTA)4(TGTA)2(TCTA)2(TGTA)2(TCTA)n, but different from the one found for allele 26 in one sample included in this exercise, as well as in the second control sample (allele 23), namely (TCTA)4(TGTA)2(TCTA)2(TGTA)2(TCTA)2(TGTA)2(TCTA)n. The collaborative exercise results proved that both Y-tetraplexes produce good amplification results, with the advantage of being efficiently typed using different separation and detection methodologies. However, since GATA C4 repeat presents a complex structure, with alleles differing in sequence structure, efficient denaturing conditions should be followed in order to avoid typing errors due to sizing problems.

The levels of haplotype diversity associated with different alpha1-antitrypsin (PI) alleles were assessed by the analysis of three microsatellites located within or close to corticosteroid-binding globulin (CBG), alpha1-antitrypsin [PI-(TG)n] and protein C inhibitor [PCI-(TG)n] loci in three populations with different historic backgrounds: Portugal, the Basque Country and São Tomé Príncipe (Gulf of Guinea). Unlike the more distant PCI-(TG)n repeat, allelic variation at PI-(TG)n reflected distinct phases of mutational recovery of microsatellite diversity around different founder alleles and showed a considerable differentiation between alpha1-antitrypsin protein variants. In accordance with population history, the Basque sample presented overall reduced levels of microsatellite variation. The African sample, although presenting the highest PCI-(TG)n diversity, showed a lineage-specific reduction in PI-(TG)n heterozygosity within the oldest M1Ala213 variant that could have been caused by (1) selection at a closely linked locus or (2) biases in the microsatellite mutation process leading to a stable equilibrium distribution. Age estimates of alpha1-antitrypsin variants based on microsatellite variation suggest that the Z deficiency allele appeared 107-135 generations ago and could have been spread in Neolithic times. The S mutation has an older 279- to 470-generation age, indicating that its high frequencies in Iberia did not result from a recent bottleneck and that PI*S could have originated in this region. M2 and M3 types had lower age estimates than would be expected from their wide geographical distributions, suggesting that their dispersion in Europe might have been preceded by important bottlenecks.

The potential of Y-chromosome biallelic marker haplotypes to infer population affiliations and structures was exploited to analyze four populations from the southwestern edge of Europe, namely north, central, and south Portugal and Galicia. Three markers subdividing the YAP+ lineage were analyzed: the YAP Alu element insertion itself and the SRY8299 and sY81 base substitutions; these respectively define three haplotypes known as 4, 21, and 8. Only haplotype 21 was detected presenting an increasing north-to-south frequency gradient, from 9.6% (Galicia) to 24.5% (South Portugal). This clinal distribution most likely reflects the genetic input associated with the Neolithic spread of agriculture, but we cannot exclude other movements as potential contributors to the distribution. In this context, it is interesting to note the consistency between the clinal variation and the population movement associated with Islamic rule in Iberia. The absence of haplotype 8, a marker of sub-Saharan populations, suggests that, despite the massive introductions of African slaves in historical times, there was little admixture between the African males and Western Iberian populations.

Seven Y-specific STR loci (DYS19, DYS389I, DY5389II, DYS390, DYS391, DYS392 and DYS393) were studied in five populations from the Iberian Peninsula: Andalusia, Valencia, Basque Country, Galicia and Northern Portugal. Haplotype and allele frequencies of these seven Y-chromosome STRs were estimated. Observed haplotype diversities are in a range between 0.96 (Basque Country) and 0.99 (Valencia and Andalusia). Significant population differentiation was registered between Basques and all the other Iberian populations and also between Valencia and Northern Portugal.

The 13 short tandem repeat (STR) loci D3S1358, vWA, FGA, D16S539, TH01, TPOX, CSF1PO, D8S1179, D21S11, D18S51, D5S818, D13S317 and D7S820 as well as the amelogenin locus, contained in AmpFlSTR Profiler Plus and/or AmpFlSTR Cofiler and/or AmpFlSTR Green I PCR amplification kits, were studied in four populations from the Iberian Peninsula, Basques, Catalans, Andalusians and Portuguese and two North African populations (Moroccan Arabs and Berbers). The aim of the study was to obtain accurate allele frequency data and other genetic parameters of forensic interest on the main representative human groups living in Iberia and Morocco using an automated method and commercial amplification kits.

Twin studies are an important tool in medical genetics for the evaluation of the relative roles of genetic and non-genetic factors in several diseases. Familial amyloidotic polyneuropathy type I (FAP-I), TTR Met 30, was present in two sets of proven monozygotic (MZ) twins, one from Majorca and the other from Portugal. Monozygosity was established by analysis of DNA polymorphisms. Both pairs were discordant for age at onset and some clinical manifestations of FAP-I. We reviewed the differences in age at onset and clinical features in both sets and in two other pairs of presumed MZ twins with FAP-I and compared them with those in MZ twin pairs with other Mendelian disorders, such as neurofibromatosis type 1, Huntington's disease, facioscapulohumeral muscular dystrophy, and myotonic dystrophy. We conclude that, in addition to the postulated modifying genes, there must be a significant contribution from non-genetic factors to the phenotypic variability of FAP-I (age at onset and clinical expression), either because of environmental differences or stochastic events during (or after) the twinning process.

Since 1992 the Spanish and Portuguese Working Group (GEP) of the International Society for Forensic Haemogenetics (ISFH) has been organizing collaborative exercises on DNA profiling with the aim of making progress on standardization and discussing technical and statistical problems in DNA analysis. A total of four exercises (GEP-92 to GEP-95) have been carried out until now. A consequence of these exercises was the creation of a quality control programme in Spain and Portugal in 1995 which was carried out simultaneously with the GEP-95 exercise. The number of participating laboratories increased from 10 in the first exercise (GEP-92) to 19 in the last exercise (GEP-95). Despite this increasing number of participating laboratories, results remained satisfactory. In the last exercises, all the laboratories used PCR-based DNA polymorphisms with an increasing number of markers obtaining good results. SLPs were used by only 30% of laboratories in the last two exercises but the results indicated a good level of expertise in most of these laboratories. The reasons for these successful results are the common use of the EDNAP protocol for SLP analysis and commercially available kits or common sequenced allelic ladders for PCR-based DNA polymorphisms.