Y-chromosome target enrichment reveals rapid expansion of haplogroup R1b-DF27 in Iberia during the Bronze Age transition.

The Y chromosome can yield a unique perspective into the study of human demographic history. However, due to the repetitive nature of part of its sequence, only a small set of regions are suitable for variant calling and discovery from short-read sequencing data. These regions combined represent 8.9 Mbp or 0.14% of a diploid human genome. Consequently, investing in whole-genome sequencing to resolve Y-chromosome questions is poorly efficient. Here we use, as an alternative, target enrichment technology to greatly increase sequencing effectiveness, validating and applying the technique to 181 males, for 162 of whom we obtained a positive result. Additionally, 75 samples sequenced for the whole genome were also included, for a total sample size of 237. These samples were chosen for their Y chromosome haplogroup: R1b-DF27. In the context of European populations, and particularly in Iberia, this haplogroup stands out for its high frequency and its demographic history. Current evidence indicates that the diffusion of this haplogroup is related to the population movements that mark the cultural Bronze Age transition, making it remarkably interesting for population geneticists. The results of this study show the effects of the rapid radiation of the haplogroup in Spain, as even with the higher discriminating power of whole sequences, most haplotypes still fall within the R1b-DF27* paragroup rather than in the main derived branches. However, we were able to refine the ISOGG 2019-2020 phylogeny, and its two main subbranches, namely L176.2 and Z272, which present geographical differentiation between the Atlantic and Mediterranean coasts of Iberia.

Sequence diversity of the uniparentally transmitted portions of the genome in the resident population of Catalonia.

Genomic reference databases of residing populations are available in different countries and regions. Since they represent the whole genetic diversity of a geographical region, they have wide applications, from biomedical studies to forensic identifications. Uniparentally transmitted portions of the genome specifically are highly suitable for kinship analyses, mixed DNA cases and geographical ancestry inferences. We have sampled 808 individuals currently residing in Catalonia within the GCAT cohort, from which we have generated 808 high-quality whole mitochondrial DNA (mtDNA) genomes and 399 sequences of the male-specific part of the Y chromosome (MSY). We observe higher genetic diversity than in classical population genetics datasets. We test the robustness of whole sequences for unequivocal identifications, and we found that they have higher resolution than mitochondrial control region and Y chromosome short tandem repeats (Y-STRs), and that most of the variants they present are at low frequencies, increasing the discrimination capacity between individuals. These results confirm the forensic applicability of whole uniparental sequences and provide one of the largest high-quality reference datasets ever published.

Recent Common Origin, Reduced Population Size, and Marked Admixture Have Shaped European Roma Genomes.

The Roma Diaspora-traditionally known as Gypsies-remains among the least explored population migratory events in historical times. It involved the migration of Roma ancestors out-of-India through the plateaus of Western Asia ultimately reaching Europe. The demographic effects of the Diaspora-bottlenecks, endogamy, and gene flow-might have left marked molecular traces in the Roma genomes. Here, we analyze the whole-genome sequence of 46 Roma individuals pertaining to four migrant groups in six European countries. Our analyses revealed a strong, early founder effect followed by a drastic reduction of ∼44% in effective population size. The Roma common ancestors split from the Punjabi population, from Northwest India, some generations before the Diaspora started, <2,000 years ago. The initial bottleneck and subsequent endogamy are revealed by the occurrence of extensive runs of homozygosity and identity-by-descent segments in all Roma populations. Furthermore, we provide evidence of gene flow from Armenian and Anatolian groups in present-day Roma, although the primary contribution to Roma gene pool comes from non-Roma Europeans, which accounts for >50% of their genomes. The linguistic and historical differentiation of Roma in migrant groups is confirmed by the differential proportion, but not a differential source, of European admixture in the Roma groups, which shows a westward cline. In the present study, we found that despite the strong admixture Roma had in their diaspora, the signature of the initial bottleneck and the subsequent endogamy is still present in Roma genomes.

Whole Y-chromosome sequences reveal an extremely recent origin of the most common North African paternal lineage E-M183 (M81).

E-M183 (E-M81) is the most frequent paternal lineage in North Africa and thus it must be considered to explore past historical and demographical processes. Here, by using whole Y chromosome sequences from 32 North African individuals, we have identified five new branches within E-M183. The validation of these variants in more than 200 North African samples, from which we also have information of 13 Y-STRs, has revealed a strong resemblance among E-M183 Y-STR haplotypes that pointed to a rapid expansion of this haplogroup. Moreover, for the first time, by using both SNP and STR data, we have provided updated estimates of the times-to-the-most-recent-common-ancestor (TMRCA) for E-M183, which evidenced an extremely recent origin of this haplogroup (2,000-3,000 ya). Our results also showed a lack of population structure within the E-M183 branch, which could be explained by the recent and rapid expansion of this haplogroup. In spite of a reduction in STR heterozygosity towards the West, which would point to an origin in the Near East, ancient DNA evidence together with our TMRCA estimates point to a local origin of E-M183 in NW Africa.

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

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.

Violencia de género: conocimientos y actitudes de las enfermeras en atención primaria / Gender violence: knowledge and attitudes of nurses in Primary Care

OBJETIVO: Evaluar el nivel de conocimiento y las actitudes de las enfermeras sobre la violencia de género y su relación con las variables sociodemográficas y la detección de casos. DISEÑO: Estudio descriptivo transversal. Emplazamiento. Centros urbanos de salud. PARTICIPANTES: Un total de 167 enfermeras de atención primaria. MEDICIONES PRINCIPALES: Se utilizó un cuestionario que incluía preguntas relativas a conocimientos, percepción del conocimiento y actitudes sobre violencia de género, y que también recogía edad, sexo, estado civil, centro de trabajo y área sanitaria. RESULTADOS: Tasa de respuesta 114 (68,2%). El porcentaje de respuestas acertadas en el test de conocimiento fue de 62,2%, observándose un nivel de conocimiento medio. El conocimiento fue superior en las enfermeras casadas o que viven en pareja (95,2%; p = 0,007). La baja detección (29%) se relaciona con estado civil (p = 0,004), bajo conocimiento (p = 0,008), autopercepción baja de conocimiento (p = 0,002), falta de formación (p = 0,03) y no aplicar el protocolo (p = 0,001). Las enfermeras con autopercepción baja de conocimiento aplican menos el protocolo (OR=0,26 IC95%: 0,1-0,7) y consideran la falta de formación como principal problema para el diagnóstico (OR=11,24; IC 95%: 1,5-81,1). CONCLUSIONES: Hay falta de confianza profesional para abordar el problema. Las actitudes ante la detección y el diagnóstico están más relacionadas con el nivel de autopercepción de conocimiento que con el nivel real. La variable estado civil influye en el nivel de conocimiento. Las enfermeras señalan la falta de formación como el principal obstáculo para dar una respuesta sanitaria eficaz

AIM: To determine the knowledge and attitudes of nurses in Primary Care as regards gender violence and their relationship with socio-demographic factors and cases detected. DESIGN: Cross-sectional, descriptive study. LOCATION: Urban health centres. Participants. A total of 167 nurses working in Primary Care. Main measurements. A questionnaire was used that included questions related to knowledge, knowledge perception and attitudes to gender violence attitudes. Variables such as age, gender, marital status, work place and health area were also analysed. RESULTS: The response rate was 114 (68.26%). The percentage of correct responses in the knowledge questions was 62.2%, with a medium level of knowledge being observed. Married nurses or couples living in a stable relationship obtained a higher score (95.2%, P=.077). The low detection (29%) is associated with marital status (P=.004), low knowledge (p = 0,008), low knowledge perception (P=.001), lack of training (P=.03) and non-implementation of the gender violence protocol (P=.001). Nurses with low self-perception of their knowledge implement the protocol less often (OR=0.26; 95% CI: 0.1-0.7), and they consider that the lack of training is the main problem in determining the diagnosis (OR=11.24; 95% CI: 1.5-81.1). CONCLUSIONS: The level of knowledge was adequate. Nurses have a lack of confidence in terms of their knowledge about gender violence. The detection and diagnosis attitudes are more related to self-perception of levels of knowledge than their real knowledge. Marital status influences the level of knowledge. Professionals state that the lack of training is the main problem to give an efficient healthcare response

[Gender violence: Knowledge and attitudes of nurses in Primary Care]. / Violencia de género: conocimientos y actitudes de las enfermeras en atención primaria.

AIM: To determine the knowledge and attitudes of nurses in Primary Care as regards gender violence and their relationship with socio-demographic factors and cases detected. DESIGN: Cross-sectional, descriptive study. LOCATION: Urban health centres. PARTICIPANTS: A total of 167 nurses working in Primary Care. MAIN MEASUREMENTS: A questionnaire was used that included questions related to knowledge, knowledge perception and attitudes to gender violence attitudes. Variables such as age, gender, marital status, work place and health area were also analysed. RESULTS: The response rate was 114 (68.26%). The percentage of correct responses in the knowledge questions was 62.2%, with a medium level of knowledge being observed. Married nurses or couples living in a stable relationship obtained a higher score (95.2%, P=.077). The low detection (29%) is associated with marital status (P=.004), low knowledge (P=0,008), low knowledge perception (P=.001), lack of training (P=.03) and non-implementation of the gender violence protocol (P=.001). Nurses with low self-perception of their knowledge implement the protocol less often (OR=0.26; 95% CI: 0.1-0.7), and they consider that the lack of training is the main problem in determining the diagnosis (OR=11.24; 95% CI: 1.5-81.1). CONCLUSIONS: The level of knowledge was adequate. Nurses have a lack of confidence in terms of their knowledge about gender violence. The detection and diagnosis attitudes are more related to self-perception of levels of knowledge than their real knowledge. Marital status influences the level of knowledge. Professionals state that the lack of training is the main problem to give an efficient healthcare response.