SUMMARY: Owing to extensive overexploitation and continuous habitat loss in recent decades, Dalbergia stevensonii has become endangered in Central America and its place of origin. Genetic diversity is essential for ensuring the long-term survival of the species and is vital in breeding programs. However, knowledge of the genetic diversity of D. stevensonii is limited, as no study has been conducted to estimate the population variability in Guatemala. This study is the first to determine the genetic diversity and structure of wild populations of D. stevensonii in Guatemala using molecular markers. The genetic diversity of 90 wild D. stevensonii trees from six populations located in their natural range is currently being evaluated. Genetic diversity was moderate, with an average of 5.83 alleles per locus, a mean Shannon index value of 1.42, and observed and expected heterozygosity of 0.32 and 0.37, respectively. AMOVA indicated that only 6 % of the genetic variation was between populations, and genetic distance values (pairwise FST) suggested moderate differentiation between populations. STRUCTURE and DAPC analyses revealed the existence of three clusters for the 90 samples, while the genetic differentiation among populations is attributed more to genetics than to geographic distance. Conservation of the genetic diversity of D. stevensonii is critical to ensure its long-term survival, and the success of breeding programs focused on improving the traits and characteristics of the species, such as growth rate, wood quality, and resistance to pests and diseases. These findings provide a crucial genetic basis for conservation, management, and restoration of this endemic species.

RESUMEN: Debido a la sobreexplotación y continua pérdida de hábitats en las últimas décadas, Dalbergia stevensonii está en peligro de extinción en América Central, su lugar de origen. La diversidad genética es un factor esencial para garantizar la supervivencia de la especie a largo plazo y es vital en los programas de mejoramiento. Sin embargo, el conocimiento sobre la diversidad genética de D. stevensonii es limitado, ya que no se ha realizado ningún estudio para estimar la variabilidad de las poblaciones en Guatemala. Este es el primer estudio realizado en Guatemala para determinar la diversidad genética y la estructura de las poblaciones silvestres de D. stevensonii utilizando marcadores moleculares. Actualmente, se está evaluando la diversidad genética de 90 árboles silvestres de D. stevensonii procedentes de seis poblaciones situadas en su área de distribución natural. La diversidad genética es moderada, con una media de 5,83 alelos por locus, un valor medio del índice de Shannon de 1,42 y una heterocigosidad observada y esperada de 0,32 y 0,37 respectivamente. El análisis AMOVA mostró que solamente el 6 % de la variación genética se presenta entre poblaciones, y los valores de distancia genética (FST por pares) sugieren una diferenciación moderada entre poblaciones. Los análisis STRUCTURE y DAPC revelaron la existencia de tres conglomerados para las 90 muestras, mientras que las diferenciaciones genéticas entre poblaciones se atribuyeron más a la distancia genética que a la geográfica. La conservación de la diversidad genética de D. stevensonii es fundamental para garantizar su supervivencia a largo plazo y el éxito de los programas de mejoramiento centrados en la mejora de los rasgos y características de la especie, como la tasa de crecimiento, la calidad de la madera y la resistencia a plagas y enfermedades. Estos hallazgos proporcionan una base genética crucial para la conservación, gestión y restauración de esta especie endémica.

ABSTRACT Random Forest approaches have been used in phenotyping at both morphological and metabolic levels and in genomics studies, but direct applications in practical situations of plant genetics and breeding are scarce. Random Forest was compared with Discriminant Analysis for its ability in classifying tomato individuals belonging to different breeding populations, exclusively based on phenotypic fruit quality traits. In order to take into account different steps in breeding programs, two populations were assayed. One was composed by a set of RILs derived from an interspecific tomato cross, and the other was composed by two of these RILs and the corresponding F1, F2 and backcross generations. Being tomato an autogamous species, the first population was considered a final step in breeding programs because promising genotypes are being evaluated for putative commercial release as new cultivars. Meanwhile, the second one, in which new variation is being generated, was considered as an initial step. Both Random Forest and Discriminant Analysis were able to classify populations with the aim of evaluating general variability and identifying the traits that most contribute to this variability. However, overall errors in classification were lower for Random Forest. When comparing the adequacy of classification between populations, errors of both statistical analyses were greater in the second population than in the first one, though Random Forest was more precise than Discriminant Analysis even in this initial step of plant breeding programs. Random Forest allowed breeders to get a reliable classification of tomato individuals belonging to different breeding populations.

RESUMEN Los enfoques de Random Forest se han utilizado en la fenotipificación, tanto a nivel morfológico como metabólico, y en estudios de genómica, pero las aplicaciones directas en situaciones prácticas de fitomejoramiento y genética son escasas. Random Forest se comparó con el Análisis Discriminante por su capacidad en la clasificación de individuos de tomate pertenecientes a diferentes poblaciones de mejoramiento, exclusivamente en función de los rasgos fenotípicos de calidad de la fruta. Para tener en cuenta los diferentes pasos en los programas de mejoramiento, se ensayaron dos poblaciones. Una estaba compuesta por un conjunto de RILs derivadas de un cruce interespecífico de tomate, y la otra estaba compuesta por dos de estas RILs y las correspondientes generaciones F1, F2 y retrocruzas. Siendo el tomate una especie autógama, la primera población se consideró un paso final en los programas de mejoramiento porque se están evaluando genotipos prometedores para su lanzamiento comercial putativo como nuevos cultivares. Mientras tanto, la segunda, en la que se está generando nueva variación, se consideró como un paso inicial. Tanto Random Forest como Análisis Discriminante pudieron clasificar poblaciones con el objetivo de evaluar la variabilidad general e identificar los rasgos que más contribuyen a esta variabilidad. Sin embargo, los errores generales en la clasificación fueron menores para Random Forest. Al comparar la adecuación de la clasificación entre poblaciones, los errores de ambos análisis estadísticos fueron mayores en la segunda población que en la primera, aunque Random Forest fue más preciso que el Análisis Discriminante incluso en este paso inicial de los programas de fitomejoramiento. Random Forest permitió a los criadores obtener una clasificación fiable de individuos de tomate pertenecientes a diferentes poblaciones de cría.

ABSTRACT The use of the cytome assay in monitoring studies on children has increased in recent years. For this reason, it is necessary to know the role of possible confounding factors that could affect its outcomes. The objective was to evaluate the influence of some demographic variables and diet on the baseline values of the cytome assay biomarkers in lymphocytes and buccal mucosa cells from a group of Argentine adolescents. Following the calculation of the biomarkers, a multivariate regression analysis including confounders was performed. In lymphocytes it was observed that micronuclei (MNi) had a negative association with a moderate consumption of roots and tubers, while the number of nuclear buds (NBUDs) was higher in minors not exposed to second-hand smoke (SHS). Regarding epithelial cells, MNi had a negative relationship with the intake of tropical fruits and red meat; on the contrary, this parameter increased with the moderate ingestion of legumes. In addition, oral NBUDs had a positive association with citrus and red meat consumption, whereas cereals and oil decreased its frequency. Furthermore, an increased number of binucleated cells was observed for adolescents who ate white meat and an increase in pyknotic cells for those exposed to SHS. These results revealed that in adolescents the baseline level of the cytome assay biomarkers, especially of those related to genotoxicity, can be influenced by exogenous variables, for instance, dietary habits. Thus, such factors need to be considered when carrying out biomonitoring studies on child populations.

RESUMEN El uso del ensayo de citoma en estudios de seguimiento en niños se ha incrementado en los últimos años y resulta necesario conocer el papel de posibles factores de confusión que podrían afectar sus resultados. El objetivo fue evaluar la influencia de algunas variables demográficas y de la dieta en los valores basales de los biomarcadores de este ensayo en linfocitos y células de mucosa bucal de un grupo de adolescentes argentinos. Luego del cálculo de los biomarcadores, se realizó un análisis de regresión multivariada incluyendo factores de confusión. En linfocitos se observó que los micronúcleos (MN) se asociaron negativamente con un consumo moderado de raíces y tubérculos, mientras que los brotes nucleares (BrN) aumentaron en los menores no expuestos al humo de segunda mano (HSM). En células epiteliales, los MN tuvieron una relación negativa con el consumo de frutas tropicales y carnes rojas, aunque aumentaron con el consumo moderado de legumbres. Los BrN orales tuvieron una asociación positiva con el consumo de cítricos y carnes rojas, mientras que los cereales y el aceite disminuyeron su frecuencia. Además, se encontró un mayor número de células binucleadas para quienes comieron carne blanca y un aumento de células picnóticas para los expuestos a HSM. Estos resultados revelaron que en los adolescentes el nivel basal de los biomarcadores del ensayo de citoma, especialmente de aquellos relacionados con la genotoxicidad, puede verse influenciado por variables exógenas como los hábitos alimentarios. Por lo tanto, dichos factores deben considerarse al realizar estudios de biomonitoreo en poblaciones infantiles.

Abstract Attention-deficit/hyperactivity disorder (ADHD) is a complex and heterogeneous neurodevelopmental disor der from a causal, clinical and prognostic perspective. Research reflects its multifactorial nature with a promi nent role of genetic factors. Population studies have historically pointed to the involvement of numerous genetic variants of small effect size, which hardly by themselves increase the risk of presenting the disorder and hardly justify its high heritability. Many of them are present in more than 60% of the general population, suggesting their modulatory rather than causal role. However, after the irruption of new genetic techniques in the last 15 years, a greater number of cases are be ing identified with genetic disorders (many of them monogenic), whose genetic variants alone explain the presence of ADHD. A detailed study of the personal and family history, as well as a complete physical examination, can help to identify some of them. The identification of the cause in this group of cases has a crucial value in clinical counseling, genetic-familial counseling and prognostic anticipation, as well as in the performance or avoidance of complementary stud ies and in the design of the intervention plan.

Resumen El trastorno por déficit de atención/hiperactividad (TDAH) es un trastorno del neurodesarrollo complejo y heterogéneo desde una perspectiva causal, clínica y pro nóstica. La investigación refleja su carácter multifactorial con un papel destacado de los factores genéticos. Los estudios poblacionales han señalado históricamente la implicación de numerosas variantes genéticas de escaso tamaño de efecto, las cuales por sí mismas apenas incre mentan el riesgo de TDAH y difícilmente justifican su ele vada heredabilidad. Muchas de ellas están presentes en más del 60% de la población general, lo que sugiere su pa pel modulador más que causal. No obstante, gracias a la irrupción de nuevas técnicas genéticas en los últimos 15 años, se están identificando un mayor número de casos con trastornos genéticos (muchos de ellos monogénicos), cuyas variantes genéticas explican por sí mismas la presencia del TDAH. El estudio detallado de los antecedentes personales y familiares, así como una exploración física completa, puede ayudar a identificar algunos de ellos. La identificación de la causa en este conjunto de casos tiene un valor crucial en el asesoramiento clínico, el consejo genético-familiar y la anticipación pronóstica, así como en la realización o evitación de estudios complementarios y en el diseño del plan terapéutico.

Resumen Introducción y objetivos: Actualmente, no existen marcadores microsatélites disponibles para ninguna especie americana del género Vachellia, y particularmente, para V. aroma. Por lo tanto, los objetivos de este estudio fueron desarrollar marcadores SSR específicos para Vachellia aroma por primera vez, y probar su amplificación en una especie emparentada. M&M: Para el desarrollo de los microsatélites en V. aroma, se extrajo ADN genómico total de un individuo y este fue secuenciado en un cuarto de placa en una plataforma Roche 454 GS FLX+. El área de estudio comprendió dos poblaciones argentinas: San José y Robles, provincia de Santiago del Estero. Resultados: Detectamos 422 secuencias que contenían loci microsatélites. Un set de 39 pares de cebadores presentó amplificación de productos en Vachellia aroma y Vachellia caven, pero doce de ellos mostraron un patrón claro, reproducible y polimórfico en V. aroma. Conclusiones: Los resultados de este trabajo indican que se ha desarrollado un nuevo set de marcadores SSR específicos para V. aroma y su transferencia a V. caven fue exitosa. El análisis de variabilidad mostró que estos 12 marcadores polimórficos son altamente informativos, constituyendo una poderosa herramienta para investigar parámetros de la genética de poblaciones en V. aroma y especies relacionadas.

Summary Background and aims: There are currently no microsatellite markers available for any American species of Vachellia, and particularly, for V. aroma. Then the aims of this study were to develop SSR markers specific for V. aroma, for the first time, and test its amplification in a close related species. M&M: For the development of the SSR in V. aroma, total genomic DNA was extracted and it was sequenced in a one-fourth run on a Roche 454 GS FLX+ platform. The study area included two Argentinean populations: San José and Robles, Santiago del Estero province. Results: We detected 422 sequences containing SSR loci. A set of 39 primer pairs presented amplified products in V. aroma and V. caven, but 12 revealed clear, replicable and polymorphic loci in V. aroma. Conclusions: The results of this work indicate that a new set of SSR markers was developed for V. aroma and their transferability to V. caven was assessed. The analysis of variability, showed that these 12 polymorphic markers are highly informative, and a powerful tool to investigate population genetics parameters in V. aroma and related species.

RESUMEN Introducción: Se ha tratado de identificar los factores genéticos relacionados con susceptibilidad para enfermedad inflamatoria intestinal (EII), y los hallazgos actuales se inclinan por un modelo de patología complejo, sin un patrón hereditario claro. Objetivo: Realizar caracterización fenotípica y genotípica de pacientes con EII en población colombiana y describir su posible asociación con predisposición. Materiales y métodos: Serie de casos, 16 pacientes con EII por criterios clínicos y anatomopatológicos, inicio de síntomas gastrointestinales después de los 18 años. Todos tuvieron asesoramiento genético pre-test y se realizaron árboles genealógicos de mínimo tres generaciones. También, genotipificación, por medio de un panel de genes múltiples que incluía genes relacionados con EII y algunos trastornos autoinmunitarios. Finalmente, se realizó análisis genómico de variantes. Resultados: 9 mujeres y 7 hombres, con edad media de diagnóstico de EII 35 años, y 32 años para aparición de síntomas gastrointestinales. 11/16(68,75%) requirieron terapia biológica. 10/16 (62,5%) presentaron refractariedad a terapia estándar. 3/16 (18,75%) tenían antecedentes familiares positivos de EII. 100% casos presentaron al menos un single nucleotide polymorphism relacionado con riesgo de EII en más de un gen. Los genes más relacionados con colitis ulcerosa (CU), fueron CD48, CD6, y TYK2 para CU, y CD6 e ITGAM para la enfermedad de Crohn. El gen más frecuente fue CD6. Se observó en 3/16 (18,75%) presencia de hasta 5 genes, 4 en 3/16 (18,75%), y tres en 5/16 (31,25%). Conclusión: En EII hay presencia de variantes genéticas con predisposición asociada, pero sin patogenicidad confirmada, y cuya sumatoria parece contribuir en su fisiopatología.

ABSTRACT Introduction: Attempts have been made to identify the genetic factors related to susceptibility to inflammatory bowel disease (IBD), and the current conclusions are in favor of a complex pathology model, without a clear hereditary pattern. Objective: To perform phenotypic and genotypic characterization of patients with IBD in Colombian population and to describe its possible association with predisposition. Materials and methods: case series, 16 patients with IBD according to clinical and pathological criteria, onset of gastrointestinal symptoms after 18 years of age. All had pre-test genetic counseling and family trees of at least three generations were made. Also, genotyping, using a multigene panel that included genes related to IBD and some autoimmune disorders. Finally, a genomic analysis of variants was performed. Results: 9 women and 7 men, with mean age of diagnosis of IBD of 35 years, and gastrointestinal symptoms appearance of 32 years. 11/16 (68.75%) required biological therapy. 10/16 (62.5%) were refractory to standard therapy. 3/16 (18.75%) had positive family history of IBD. 100% cases presented at least one single nucleotide polymorphism related to IBD risk in more than one gene. The genes most related to ulcerative colitis (UC) were CD48, CD6, and TYK2 for UC, and CD6 and ITGAM for Crohn's disease. The most frequent gene was CD6. It was found presence of up to 5 genes in 3/16 (18.75%), 4 in 3/16 (18.75%), and three in 5/16 (31.25%). Conclusion: In IBD there is the presence of genetic variants with associated predisposition, but without confirmed pathogenicity, and whose sum seems to contribute to its pathophysiology.

Abstract Genomic effect variants associated with survival and protection against complex diseases vary between populations due to microevolutionary processes. The aim of this study was to analyse diversity and distribution of effect variants in a context of potential positive selection. In total, 475 individuals of Lithuanian origin were genotyped using high-throughput scanning and/or sequencing technologies. Allele frequency analysis for the pre-selected effect variants was performed using the catalogue of single nucleotide polymorphisms. Comparison of the pre-selected effect variants with variants in primate species was carried out to ascertain which allele was derived and potentially of protective nature. Recent positive selection analysis was performed to verify this protective effect. Four variants having significantly different frequencies compared to European populations were identified while two other variants reached borderline significance. Effect variant in SLC30A8 gene may potentially protect against type 2 diabetes. The existing paradox of high rates of type 2 diabetes in the Lithuanian population and the relatively high frequencies of potentially protective genome variants against it indicate a lack of knowledge about the interactions between environmental factors, regulatory regions, and other genome variation. Identification of effect variants is a step towards better understanding of the microevolutionary processes, etiopathogenetic mechanisms, and personalised medicine. processes total 47 highthroughput throughput andor or technologies preselected pre selected polymorphisms nature significance SLCA SLC A SLC30A factors regions variation mechanisms medicine 4

Abstract The progressive fragmentation and loss of habitats represent the main threats for endangered species, causing genetic consequences that may have potential implications for a population’s long-term persistence. Large mammals are the most affected species among vertebrates. The giant armadillo Priodontes maximus is a large South American mammal threatened species, showing nocturnal, solitary and fossorial behavior, occurring at low population densities, and its population dynamics are still poorly known. In this study, we carried out the first assessment of genetic variability and population genetic structure of the species, using a panel of 15 polymorphic microsatellites developed by high-throughput genome sequencing. The spatial Bayesian clustering, Fst and Dest results indicated the presence of two genetic clusters (K = 2) in the study area. These results suggest a reduction in gene flow between individuals inhabiting the Brazilian savanna (Cerrado) and the Pantanal wetlands, with the increased human-driven habitat modifications possibly contributing for this scenario. A bottleneck signal was detected in both populations, and a subpopulation structuring in the Cerrado may also be reflecting consequences of the extensive habitat modifications. Findings from this study provide important and useful information for the future maintenance of genetic diversity and long-term conservation of this flagship species. populations s longterm long term persistence vertebrates nocturnal behavior densities known 1 highthroughput high throughput sequencing clustering K 2 area (Cerrado wetlands humandriven human driven scenario

Abstract Drosophila melanogaster is undoubtedly one of the most useful model organisms in biology. Initially used in solidifying the principles of heredity, and establishing the basic concepts of population genetics and of the synthetic theory of evolution, it can currently offer scientists much more: the possibility of investigating a plethora of cellular and biological mechanisms, from development and function of the immune system to animal neurogenesis, tumorigenesis and beyond. Extensive resources are available for the community of Drosophila researchers worldwide, including an ever-growing number of mutant, transgenic and genomically-edited lines currently carried by stock centers in North America, Europe and Asia. Here, we provide evidence for the importance of stock centers in sustaining the substantial increase in the output of Drosophila research worldwide in recent decades. We also discuss the challenges that Brazilian Drosophila scientists face to keep their research projects internationally competitive, and argue that difficulties in importing fly lines from international stock centers have significantly stalled the progression of all Drosophila research areas in the country. Establishing a local stock center might be the first step towards building a strong local Drosophila community that will likely contribute to all areas of life sciences research. biology heredity evolution more mechanisms neurogenesis beyond evergrowing ever growing mutant genomicallyedited genomically edited America Asia Here decades competitive country

Abstract In phytophagous insects, adaptation to a new host is a dynamic process, in which early and later steps may be underpinned by different features of the insect genome. Here, we tested the hypothesis that early steps of this process are underpinned by a shift in gene expression patterns. We set up a short-term artificial selection experiment (10 generations) for the use of an alternative host (Cicer arietinum) on populations of the bean beetle Zabrotes subfasciatus. Using Illumina sequencing on young adult females, we show the selected populations differ in the expression of genes associated to stimuli, signalling, and developmental processes. Particularly, the “C. arietinum” population shows upregulation of histone methylation genes, which may constitute a strategy for fine-tuning the insect global gene expression network. Using qPCR on body regions, we demonstrated that the “Phaseolus vulgaris” population upregulates the genes polygalacturonase and egalitarian and that the expression of an odorant receptor transcript variant changes over generations. Moreover, in this population we detected the existence of vitellogenin (Vg) variants in both males and females, possibly harbouring canonical reproductive function in females and extracellular unknown functions in males. This study provides the basis for future genomic investigations seeking to shed light on the nature of the proximate mechanisms involved in promoting differential gene expression associated to insect development and adaptation to new hosts. insects genome Here patterns shortterm short term 10 (1 generations Cicer arietinum subfasciatus stimuli signalling processes Particularly C. C “C finetuning fine tuning network regions Phaseolus vulgaris Moreover Vg (Vg hosts 1 (

Resumo Panax vietnamensis Ha et Grushv. é uma espécie medicinal preciosa nativa das florestas tropicais do Vietnã. Por causa da perda de hábitat e da colheita excessiva, essa espécie está ameaçada de extinção no Vietnã. Para conservá-la, investigamos a variabilidade genética e a estrutura populacional usando nove microssatélites para 148 indivíduos de sete populações em toda a distribuição atual de P. vietnamensis no Vietnã. Determinamos uma diversidade genética moderada dentro das populações (HO = 0,367 e HE = 0,437) e diferenciação populacional relativamente baixa (índice de Weir e Cockerham de 0,172 e índice de Hedrick de 0,254), com diferenciação significativa (P < 0,05), o que sugeriu fragmentação de hábitats, sobreutilização e sobre-exploração de P. vietnamensis. Diferentes métodos de agrupamento revelaram que os indivíduos foram agrupados em dois agrupamentos principais, que foram associados ao fluxo gênico em toda a área geográfica de P. vietnamensis. Este estudo também detectou que as populações de ginseng podem ter sofrido um gargalo recente. Recomendamos medidas em futuros programas de conservação e melhoramento de P. vietnamensis.

Abstract Panax vietnamensis Ha et Grushv. is a precious medicinal species native to the tropical forests of Vietnam. Due to habitat loss and over-harvesting, this species is endangered in Vietnam. To conserve the species, we investigated genetic variability and population structure using nine microsatellites for 148 individuals from seven populations across the current distribution range of P. vietnamensis in Vietnam. We determined a moderate genetic diversity within populations (HO = 0.367, HE = 0.437) and relatively low population differentiation (the Weir and Cockerham index of 0.172 and the Hedrick index of 0.254) and showed significant differentiation (P < 0.05), which suggested fragmented habitats, over-utilization and over-harvesting of P. vietnamensis. Different clustering methods revealed that individuals were grouped into two major clusters, which were associated with gene flow across the geographical range of P. vietnamensis. This study also detected that ginseng populations can have undergone a recent bottleneck. We recommend measures in future P. vietnamensis conservation and breeding programs.

Resumo Menina de seis anos com cardiomiopatia restritiva e hipertrabeculação na qual, devido ao início precoce da doença, foi realizado sequenciamento completo do exoma, revelando a presença de uma nova variante heterozigótica missense no gene FLNC. A mesma variante genética também foi identificada em seu pai, que, já adulto, apresentava resultados de imagem normais e não apresentava sintomas. Esta variante não foi relatada em bancos de dados populacionais ou na literatura médica atual e é classificada como provavelmente patogênica. qual doença exoma FLNC pai que adulto sintomas patogênica

Abstract A six-year-old girl with restrictive cardiomyopathy and hypertrabeculation, due to the early onset of her disease, whole exome sequencing was conducted, revealing the presence of a novel heterozygous missense variant in the FLNC gene. The same gene variant was also identified in her father, who, at an adult age, displayed normal imaging results and was symptom-free. This variant has not been reported in population databases or current medical literature and is classified as likely pathogenic. sixyearold six year old hypertrabeculation disease conducted father who age symptomfree. symptomfree symptom free. free symptom-free pathogenic

ABSTRACT Pterobdella arugamensis (Silva, 1963) is a marine leech that can be found the Indo-West Pacific region and has shown undesired effects in the aquaculture industry. In the Asia Pacific region, it has infested predominantly on the cultured hybrid groupers. Despite its known distributional range, the dispersion and transportation mechanisms of P. arugamensis are still poorly known. Hence, analyzing the DNA sequences of P. arugamensis may shed some light on this enigmatic leech, which will aid in mitigating the leech-associated issues faced by the aquaculture industry. This study analyzed the mitochondrial cytochrome b (CYTB) gene sequences of P. arugamensis from Brunei, China and Indonesia. The results provided further confirmation that P. arugamensis from these sites showed variation within the overall population but significant differences in its distribution across the region were not observed, which could be due to its introduction via the aquaculture industry or due to natural migration. Silva, Silva (Silva 1963 IndoWest Indo West groupers range P Hence leechassociated associated CYTB (CYTB Brunei Indonesia observed migration 196 19 1

ABSTRACT Backgrounds: Urban and peri-urban fragments are vital for biodiversity conservation, requiring genetic assessment of tree species in fragmented forests. The aim of this study was to analyze the genetic variability and diversity for adult individuals of J. micrantha along an urban-rural gradient in the Araucaria Forest. Fifteen individuals were sampled, with five from each remaining forest type. Initially, 10 ISRR primers were tested. Five mother trees were chosen from each site (urban, peri-urban, and rural) with a minimum distance of 100 m. The experimental design was a RCBD with 15 progenies, three provenances, three blocks, and 20 plants per plot, totaling 900 seedlings. Results: The average percentage of polymorphic loci was 93.33%. The urban population showed a greater loss of genetic diversity (H=0.1806). 79% of the genetic diversity was found within populations. The observed gene flow value (Nm) was 1.8790, indicating that there were no random losses of alleles within populations. The fragments did not exhibit significant differences, but there were significant differences among the progenies. The stem diameter (SD) and the height-diameter relationship (H/SD) emerged as the key traits for selecting new individuals due to their higher heritability (< 0.50), accuracy (< 0.70), and relative coefficient of variation (< 7%). Conclusion: The urban fragment is the most affected, but gene flow between fragments prevents the random loss of alleles. The analysis suggests that these fragments form a unique population, despite geographic barriers. Thus, the three fragments can be considered when choosing superior individuals for future progeny tests in genetic improvement programs for the species. Backgrounds periurban peri conservation forests J urbanrural rural Forest sampled type Initially 1 tested urban, (urban periurban, m progenies provenances blocks 2 plot 90 seedlings Results 9333 93 33 93.33% H=0.1806. H01806 H H=0.1806 . 0 1806 (H=0.1806) 79 populations Nm (Nm 18790 8790 1.8790 SD (SD heightdiameter height H/SD HSD (H/SD < ( 0.50, 050 0.50 , 50 0.50) 0.70, 070 0.70 70 0.70) 7%. 7 7% 7%) Conclusion affected barriers Thus 9 933 3 93.33 H0180 H=0.180 180 (H=0.1806 1879 879 1.879 05 0.5 5 07 0.7 93.3 H018 H=0.18 18 (H=0.180 187 87 1.87 0. 93. H01 H=0.1 (H=0.18 8 1.8 H0 H=0. (H=0.1 1. H=0 (H=0. H= (H=0 (H= (H

ABSTRACT Introduction: Fetal ultrasound has achieved a central role in the modern diagnosis of fetal growth deviations. Objective: To determine the local discrimination power and the performance of fetal biometric variables at 33 weeks with respect to the trophic condition of the newborn. Methods: An observational, analytical and retrospective study was carried out in three health areas of Santa Clara Municipality, in the period between January 2013 and December 2019. From a population of 6035 births, 2454 were selected by simple random sampling. Data were obtained from records of genetics consultations. Areas were constructed under the receiver operating characteristic curve and performance indicators for diagnostic tests were calculated. Results: The areas under the curve of the biometric variables discriminate between those born small or large based on gestational age. Local cut-off points are estimated. Biometrics performance indicators maintain regular behavior; those calculated by transforming the values from the reference tables are more specific, while those calculated by transforming the variables by the estimated cut-off points increase sensitivity. Conclusions: All the biometric variables have some discriminatory capacity for deviations from the trophic condition at birth, higher for those born small based on gestational age. The performance indicators of the fetal biometric variables showed superiority according to the estimated cut-off points compared to those of the reference tables.

RESUMEN Introducción: El ultrasonido fetal ha logrado un papel central en el diagnóstico moderno de las desviaciones de crecimiento fetal. Objetivo: Determinar el poder discriminatorio local y desempeño de variables biométricas fetales a las 33 semanas sobre la condición trófica del recién nacido. Métodos: Se realizó estudio observacional, analítico y retrospectivo en tres áreas de salud del municipio Santa Clara, en el período comprendido entre enero de 2013 a diciembre del 2019. De una población de 6035 nacidos se seleccionaron 2454 por muestreo simple aleatorio. Se obtuvieron datos de registros de las consultas de genética. Se construyeron áreas bajo la curva Receiver Operating Characteristic y se calcularon indicadores de desempeño para pruebas diagnósticas. Resultados: Las áreas bajo la curva de las variables biométricas discriminan a los nacidos pequeños y grandes para la edad gestacional. Se estiman puntos de corte locales. Los indicadores de desempeño de la biometría mantienen un comportamiento regular; los calculados al transformar los valores a partir de las tablas de referencia son más específicos; y los calculados al transformar las variables por los puntos de corte estimados elevan la sensibilidad. Conclusiones: Todas las variables biométricas tienen capacidad discriminatoria para las desviaciones de la condición trófica al nacer, superior para los nacidos pequeños para la edad gestacional. Los indicadores de desempeño de las variables biométricas fetales demostraron superioridad según los puntos de corte estimados respecto a los de las tablas de referencia.