ABSTRACT Objective. To determine the feeding behavior of Aedes aegypti in dengue outbreaks in two rural areas of Peru during the Yaku cyclone and El Niño phenomenon of 2023. Material and methods. Eight blood samples (8 pools) were obtained from the abdomen of 80 Aedes aegypti specimens captured in the rural districts of Querecotillo and Marcavelica during the Yaku cyclone and El Niño dengue outbreaks. DNA was extracted from the analyzed samples, then a PCR was directed at the CytB gene as a genetic marker and the PCR products were enzymatically digested with the restrictases Hae III and Mwo I. The PCR-RFLP products were visualized by agarose gel electrophoresis at 4%. Results. DNA was obtained from all samples and a 358 bp amplicon was obtained as a PCR product. Likewise, the only RFLP found in Hae III was from Homo sapiens sapiens (233 and 125 bp). RFLP was not found in Hae III of Gallus gallus and RFLP in Mwo I of Canis familiaris and Mus musculus. Conclusion. Aedes aegypti showed conserved anthropophilic feeding behavior in dengue outbreaks in rural areas during the Yaku cyclone and El Niño.

RESUMEN Objetivos. Determinar la alimentación del Aedes aegypti en brotes de dengue de dos zonas rurales del Perú durante el ciclón Yaku y El Niño Global del 2023. Material y métodos. Se analizaron ocho muestras de sangre (8 pooles) obtenidas del abdomen de 80 especímenes Aedes aegypti capturados en los distritos rurales de Querecotillo y Marcavelica durante brotes de dengue acontecidos en el ciclón Yaku y en El Niño Global. Se extrajo ADN de las muestras analizadas, se llevó a cabo una PCR dirigida al gen CytB como marcador genético y los productos PCR fueron digeridos enzimáticamente con las restrictasas Hae III y Mwo I. Los productos PCR-RFLP fueron visualizados por electroforesis en gel de agarosa al 4%. Resultados. Se obtuvo ADN de todas las muestras y como producto PCR un amplicón de 358 pb. Así mismo, el único RFLP en Hae III observado fue el de Homo sapiens sapiens (233 y 125 pb). No se observó RFLP en Hae III de Gallus gallus y RFLP en Mwo I de Canis familiaris y Mus musculus. Conclusión. En brotes de dengue de zonas rurales, durante el ciclón Yaku y en El Niño Global, el Aedes aegypti presentó un comportamiento alimenticio antropofílico conservado.

RESUMEN El síndrome de Wells es una afección dérmica que presenta un gran polimorfismo clínico. Es una patología autolimitada, recurrente y su origen es incierto. Reportamos el caso de una paciente de 29 años, procedente del área Central de Paraguay, comerciante, sin patología de base que consultó por edema de manos y piel. El tratamiento indicado fue corticoide vía oral y desparasitación con buena evolución y sin recidivas.

ABSTRACT Wells syndrome is a dermal condition with a high clinical polymorphism. It is a self-limited, recurrent pathology and its origin is uncertain. We report the case of a 29-year-old female patient from the central area of Paraguay, a shopkeeper, with no underlying pathology, who consulted for hand and skin edema. The indicated treatment was oral corticosteroid and deworming with good evolution and no recurrences.

Abstract In Argentina, obesity has been on the rise since 2005. The factors shown to be associated with obesity are of a socio-environmental and genetic nature. Among the latter, the FTO gene has been the most extensively studied. The aim of the present work was to analyze the relationship between two markers of the FTO gene, namely rs9939609 and rs11075997, and socio-environmental variables with nutritional status in a sample of 155 individuals from Puerto Madryn, Chubut. Body mass index (BMI) and waist-to-height index (WHtR) were calculated, and multiple linear models were tested to determine the influence of genetic and non-genetic variables on these anthropometric indices. Nutritional status was significantly and negatively associated with educational level and physical activity. The allele reported in the literature as risk allele of the marker rs11075997 was significantly associated with an increase in anthropometric indices in an additive model, more so with WHtR than with BMI. It is necessary to carry out work on a larger scale that will allow us to determine the frequency of the genetic markers of predisposition to obesity studied here and their distribution in our country. Rev Arg Antrop Biol 26(1), 073, 2024. https://doi.org/10.24215/18536387e073

Resumen En Argentina, el exceso de peso aumentó continuamente desde el 2005 hasta el presente. Los factores con probada relación con el exceso de peso son socio-ambientales y genéticos. Entre estos últimos, el gen FTO es el más estudiado. El objetivo de este trabajo fue analizar la relación entre dos marcadores del gen FTO (rs9939609 y rs11075997) y variables socio-ambientales con el estado nutricional en una muestra de 155 personas de Puerto Madryn, Chubut. Se calcularon los índices de masa corporal (IMC) y de cintura-talla (ICT), y se probaron modelos lineales múltiples para conocer la influencia de las variables genéticas y no genéticas sobre dichos índices antropométricos. El nivel educativo y la actividad física estuvieron asociados significativamente y de manera negativa con el estado nutricional. El alelo reportado en la literatura como de riesgo del marcador rs11075997 estuvo significativamente asociado con el aumento de los índices antropométricos bajo un modelo aditivo, en mayor medida con el ICT que con el IMC. Es necesario realizar trabajos a mayor escala que permitan identificar la frecuencia de los marcadores genéticos de predisposición a obesidad aquí estudiados y su distribución en nuestro país. Rev Arg Antrop Biol 26(1), 073, 2024. https://doi.org/10.24215/18536387e073

Abstract Introduction: Stroke in young patients is associated with unconventional risk factors. The active search for these risk factors can reduce the recurrence of such events. Case presentation: We present two cases of young patients with human immunodeficiency virus (HIV) infection presenting neurological symptoms, with evidence of a subacute ischemic event in the magnetic resonance, and high homocysteine levels who underwent a search for the methylenetetrahydrofolate reductase (MTHFR) mutation, which was positive for the homozygous mutation. Discussion: HIV infection increases the risk of stroke in the young population; however, its effect in patients with controlled viremia is unclear. The presence of protein S deficiency and hyperhomocysteinemia are the most frequent procoagulant states in patients with HIV. The role of genetic mutations and hyperhomocysteinemia in patients with HIV is yet to be established. Conclusion: The active search for rare risk factors in young stroke patients plays an important role in preventing future events and modifying the course of the disease. Genetic tests open up new possibilities to understand the pathophysiology of the disease and find new relationships between risk factors.

Resumen Introducción: El ataque cerebrovascular (ACV) en pacientes jóvenes está asociado a factores de riesgo no convencionales y su búsqueda activa puede disminuir la recurrencia de estos eventos. Presentación del caso: Se presentaron dos casos de pacientes jóvenes con infección por virus de inmuno-deficiencia humana (VIH) que mostraron síntomas neurológicos, con evidencia en resonancia magnética (RM) de un evento isquémico de evolución subaguda y niveles de homocisteína elevados, a quienes se les realizó una búsqueda de mutación de metilenotetrahidrofolato reductasa (MTHFR), la cual fue positiva para mutación homocigota. Discusión: La infección por VIH aumenta el riesgo de ACV en la población joven, sin embargo, su efecto en pacientes con viremia controlada está poco claro (1). La presencia de déficit de proteína S y la hiperhomocisteinemia son los estados procoagulantes más frecuentes en pacientes con VIH (2). El papel que juegan la presencia de mutaciones genéticas en relación con la hiperhomocisteinemia en pacientes con VIH aún está por establecerse. Conclusiones: La búsqueda activa de factores de riesgo no frecuentes en pacientes jóvenes con ACV juega un rol importante en la prevención de futuros eventos y modificación de la enfermedad. Así, las pruebas genéticas abren nuevas posibilidades para entender la fisiopatología de la enfermedad y encontrar nuevas relaciones entre factores de riesgo.

Resumo: Introdução: O componente genético foi estabelecido como um fator de risco significativo para a ruptura do ligamento cruzado anterior (RLCA). As pesquisas atuais têm se concentrado em identificar os genes candidatos que podem influenciar e predispor um indivíduo a essa lesão. Objetivo: Foi realizada uma análise bibliométrica para rastrear os resultados das pesquisas e identificar tendências globais e lacunas no conhecimento sobre a relação entre o componente genético e a RLCA. Metodologia: Os dados foram extraídos das bases de dados Pubmed e Scopus e analisados no pacote Bibliometrix do software R. Um total de 63 estudos publicados desde 2007 foram identificados. Resultados: A maioria das publicações recuperadas foram artigos de pesquisa (85,71%). Os autores com o maior número dessas publicações estão na Polônia e na África do Sul. A análise por meio do mapa de coocorrência revela que há uma linha principal de pesquisa baseada no estudo de polimorfismos genéticos, especialmente nos genes das famílias de colágeno (COL1A1, COL5A1, COL12A1, com maior frequência). Um total de 54 genes candidatos foram identificados nos estudos. Conclusão: Esperamos que este estudo possa ajudar a encontrar pontos-chave e lacunas de pesquisa, fornecendo uma análise abrangente e informações estruturadas sobre este tema.

Abstract: Introduction: Genetic component has been established as a significant risk factor for anterior cruciate ligament rupture (ACLR). Current research has focused on knowing the candidate genes that can influence and predispose a subject to this injury. Objective: A bibliometric analysis was carried out to trace the results of the research and identify global trends and gaps in knowledge about the relationship between the genetic component and ACLR. Methodology: Data were extracted from the Pubmed and Scopus databases and analyzed in the Bibliometrix package of the R software. A total of 63 studies published since 2007 were identified. Results: Most of the publications recovered were research articles (85.71%). The authors with the highest number of those are in Poland and South Africa. The analysis through the co-occurrence map reveals that there is a mainline of research based on the study of genetic polymorphisms, especially in the genes of the collagen families (COL1A1, COL5A1, COL12A1, in greater frequency). A total of 54 candidate genes were identified within the studies. Conclusion: We hope that this study can help to find key points and research gaps by providing a comprehensive analysis and structured information on this topic.

Resumen: Introducción: El componente genético se ha establecido como un factor de riesgo considerable para la ruptura del ligamento cruzado anterior (RLCA). La investigación actual se ha centrado en conocer los genes candidatos que pueden influir y predisponer a un sujeto a padecer esta lesión. Objetivo: Se llevó a cabo un análisis bibliométrico para rastrear los resultados de la indagación e identificar las tendencias globales, así como las brechas en el conocimiento sobre la relación entre el componente genético y la RLCA. Metodología: Los datos fueron extraídos de las bases Pubmed y Scopus, igual que analizados en el paquete Bibliometrix del software R. Se identificó un total de 63 estudios publicados a partir del 2007. Resultados: La mayoría de las publicaciones identificadas fueron artículos de investigación (85.71 %). Los autores con mayor número de aquellas se encuentran en Polonia y Sudáfrica. El análisis a través del mapa de coocurrencias reveló que hay una línea principal de investigación basada en el estudio de polimorfismos genéticos, especialmente en los genes de las familias del colágeno (COL1A1, COL5A1, COL12A1, en mayor frecuencia). Un total de 54 genes candidatos fueron identificados en los estudios. Conclusión: Esperamos que este estudio pueda contribuir a encontrar puntos claves y vacíos de investigación, al proporcionar análisis integrales e información estructurada sobre este tema.

ABSTRACT Lessonia nigrescens and L. trabeculata are economically important kelp species in northern Chile. Despite their considerable value, the genetic diversity of these kelp has received limited attention in the Atacama region. This study aimed to analyze genetic diversity, establish genetic relationships, and identify diagnostic DNA markers in the Atacama region's L. nigrescens and L. trabeculata. Both species' Inter-sequence simple repeat (ISSR) band patterns showed high reproducibility and reliability. Among 17 ISSRs, 161 polymorphic bands were identified in Lessonia spp. Parameters, such as percentage polymorphism, number of alleles per locus, effective number of alleles, and Shannon information index, indicated that L. nigrescens had slightly higher genetic diversity than L. trabeculata. The Unweighted pair group method with arithmetic average (UPGMA) cluster analysis revealed two main clusters: one containing L. nigrescens and the other containing L. trabeculata. Additionally, four species diagnostic ISSR markers were identified for L. nigrescens and L. trabeculata. The ISSR markers proved valuable in detecting genetic diversity in L. nigrescens and L. trabeculata. This information is particularly important for marine management strategies and ensuring successful conservation.

Resumen Antecedentes: El incremento seminal de especies reactivas de oxígeno (ERO) se ha vinculado con la oxidación del ADN y anormalidades en la morfología espermática. La enzima 8-oxoguanina ADN glucosilasa 1 (OGG1) repara la oxidación del ADN. Sin embargo, la presencia del polimorfismo en la OGG1 que involucra cambio de citocina (C) por guanina (G), resultando la sustitución de una cisteína por una serina en el codón 326 (Ser326Cis), ha demostrado disminución en la reparación del ADN oxidado. Estudios del polimorfismo Ser326Cis en hombres españoles y asiáticos con infertilidad demostraron que el alelo G(Cis) incrementa las ERO, impactando en la infertilidad y en la teratozoospermia. Objetivo: Conocer la prevalencia del polimorfismo Ser326Cis de OGG1 en pacientes con teratozoospermia. Método: Se analizaron parámetros espermáticos y el polimorfismo Ser326Cis de OGG1 de 81 muestras de semen con teratozoospermia. Resultados: Los genotipos detectados fueron Ser326Ser(CC) 43%, Ser326Cis(CG) 41% y Cis326Cis(GG) 16%. La frecuencia del alelo G(Cis) fue de 0.4, valor mayor a la frecuencia reportada en las bases de datos disponibles para poblaciones americanas (0.21-0.29), los parámetros espermáticos no se relacionaron con el polimorfismo Ser326Cis. Conclusión: El alelo G(Cis) es un factor que contribuye a la infertilidad.

Abstract Background: The increase in seminal reactive oxygen species (ROS) has been linked to DNA oxidation and abnormalities in sperm morphology. The enzyme 8-oxoguanine DNA glycosylase 1 (OGG1) repairs DNA oxidation. However, the presence of the polymorphism in OGG1 that involves a change of cytokine (C) to guanine (G) resulting in the substitution of a cystine for serine at codon 326 (Ser326Cys) has shown a decrease in the repair of oxidized DNA. Studies of the Ser326Cys polymorphism in Spanish and Asian men with infertility demonstrated that the G(Cys) allele increases ROS, impacting infertility and teratozoospermia. Objective: To know the prevalence of the Ser326Cys polymorphism of OGG1 in patients with teratozoospermia. Method: Sperm parameters and the Ser326Cys polymorphism of OGG1 were analyzed from 81 semen samples. Results: The genotypes detected were Ser326Ser(CC) 43%, Ser326Cys(CG) 41%, and yis326Cys(GG) 16%. The frequency of the G allele (Cys) was 0.4, a value higher than the frequency reported in the databases available for American populations (0.21-0.29), the sperm parameters were not related to the Ser326Cys polymorphism. Conclusion: The G (Cys) allele is a factor that contributes to infertility.

ABSTRACT Background: Osteoarthritis is a frequent rheumatic disease. Some single-nucleotide polymorphisms of the gene associated with fat mass and obesity are associated with increased body mass index and knee osteoarthritis. Objective: The objective of this study was to analyze the association of single nucleotide polymorphism rs1477196 of the fat mass and obesity gene with primary knee osteoarthritis. Methods: This observational and cross-sectional study included 347 Mexican participants. We performed the genotypification analysis with TaqMan® probe C_2031262_10 for rs1477196 (Thermo Fisher Scientific). Multivariate analysis included covariables such as age, type 2 diabetes, obesity, and postmenopause. Results: Type 2 diabetes, obesity, and postmenopause were associated with primary knee osteoarthritis in female participants. We did not find an association between rs1477196 and obesity. In the codominant and dominant genetic models, rs1477196 was significantly associated with primary knee osteoarthritis only in the female group, including in the model adjusted by other covariables (odds ratio = 2.517; 1.035-6.123; p = 0.042 and odds ratio = 2.387; 1.054-5.407; p = 0.037, respectively). The interaction between rs1477196 and obesity was significantly associated with primary knee osteoarthritis in female participants (p = 0.039 and p = 0.043). Conclusions: Our findings suggest that the rs1477196 variant of the fat and obesity mass gene may be associated with the risk of primary knee osteoarthritis in women.

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 The present work was to study the genetic variability between the major carps Labeo rohita and Cirrhinus mrigala and their hybrids of L. rohita (male♂) and C. mrigala (female♀). Genetic variability was studied by employing RAPD molecular markers. 25 samples of each target species having different sizes with the same age group for the determination of interspecific variation were collected. The morphometric parameters such as body weight, total length, tail length, and lengths of dorsal and anal fins of each individual were recorded and results showed that wet body weight, total length, dorsal fin, anal fin, and tail fin length are positively correlated and then the DNA was extracted using the inorganic salt-based method and conformed by Gel electrophoresis. Twenty-four arbitrary decamer primers were used to get species-specific RAPD analysis Distinct and highly reproducible RAPD profiles with significant genetic variability was detected among species. Only five primers showed amplification. The RAPAD primer OPB-05 produced a total of seven bands out of these 5 monomorphic and 2 polymorphic, so in this case, the percentage polymorphism was 28.57%. The Hybrid show more than a 50% difference from the Labeo rohita. This shows that the Hybrid more resembles C.mrigala. Phylogenetic analysis demonstrated that hybrid (L. rohita ♂ X Cirrhinus mrigala ♀) is the closest to C. mrigala and the farthest from L. rohita. Overall data are presented concerning the applications of RAPD markers for hybrid identification, genetic diversity assessment, and studying taxonomic relationships at a molecular level. L male♂ male (male♂ C female♀. female female♀ . (female♀) collected weight saltbased salt based electrophoresis Twentyfour Twenty four speciesspecific specific amplification OPB05 OPB 05 OPB-0 polymorphic case 2857 28 57 28.57% 50 Cmrigala C.mrigala (L ♀ identification assessment level (male (female♀ OPB0 0 OPB- 285 28.57 (female 28.5 28.

Resumo O presente trabalho teve como objetivo estudar a variabilidade genética entre as carpas maiores Labeo rohita e Cirrhinus mrigala e seus híbridos de L. rohita (machos) e C. mrigala (fêmeas). A variabilidade genética foi estudada empregando marcadores moleculares RAPD. 25 amostras de cada espécie-alvo com tamanhos diferentes e com a mesma faixa etária foram coletadas para a determinação da variação interespecífica. Os parâmetros morfométricos como peso corporal, comprimento total, comprimento da cauda e comprimento das nadadeiras dorsal e anal de cada indivíduo foram registrados. O DNA foi extraído através do método à base de sal inorgânico e conformado por eletroforese em gel. 24 primers decâmeros arbitrários foram usados para obter a análise RAPD espécie-específica. Perfis RAPD distintos e altamente reprodutíveis com significativa variabilidade genética foram detectados entre as espécies. Apenas 5 primers apresentaram amplificação. O primer RAPAD OPB-05 produziu um total de 7 bandas, dessas, 5 monomórficas e 2 polimórficas, portanto, neste caso, o percentual de polimorfismo foi de 28,57%. O Hybrid mostrou mais de 50% de diferença do Labeo rohita. Isso mostra que o híbrido se parece mais com o C.mrigala. A análise filogenética demonstrou que o híbrido (L. rohita macho X Cirrhinus mrigala fêmea) é o mais próximo de C. mrigala e o mais distante de L. rohita. Foram apresentados dados relativos à aplicação de marcadores RAPD para identificação de híbridos, avaliação de diversidade genética e estudo de relações taxonômicas ao nível molecular. L machos (machos C fêmeas. fêmeas . (fêmeas) espéciealvo espécie alvo interespecífica corporal registrados gel espécieespecífica. espécieespecífica específica. específica espécie-específica espécies amplificação OPB05 OPB 05 OPB-0 bandas dessas polimórficas portanto caso 2857 28 57 28,57% 50 Cmrigala C.mrigala (L fêmea molecular (fêmeas OPB0 0 OPB- 285 28,57 28,5 28,

Abstract Cichlid fishes exhibit rapid adaptive radiations with significant diversification rates in response to ecological variability, i.e., ecological opportunity or geographical isolation. The discovery of a Midas cichlid species in Lake Batur, Indonesia's largest volcanic lake, first reported in 2013, could represent such adaptations. Midas cichlids can now be found in a range of habitats in Lake Batur and dominate the lake's fish population by up to 60%. This study aimed to identify the interaction between habitat, water quality, and Midas cichlid in Lake Batur, facilitating morphometric variances in the fish populations. The fish were captured at five locations in Lake Batur using fishing rods, community nets with mesh sizes of 2–3 inches, experimental gillnets with mesh sizes of 1 inch, and fish scoops in floating net cages during August and November 2022. There were 46 fish samples caught from the five stations, all photographed using a digital camera and later measured using the ZEN 2012 software. The fish measurement employed a truss morphometric method using 21 distinct morphometric body features. Canonical analysis was used to determine the distribution of characteristics, while discriminant analysis was used to examine the closeness of association. The measured water quality parameters included pH, DO, temperature, conductivity, and TDS for in-situ and TSS, TP, TN, and chlorophyll A for ex-situ. The findings revealed morphometric changes among Midas cichlid species in Lake Batur caused by habitat and water quality differences. The distinction can be detected in the anterior and posterior bodies (C1, B1, C3, C6, C5, B3 and B4). Temperature and aquatic plants, Azolla pinnata, may detect the station and shape of fish in Lake Batur. Body shape cannot be identified by chlorophyll A, TN, DO, and TDS. Future genetic research could answer why fish groups with varied body types coexist in the same location. variability ie i e i.e. isolation Indonesias Indonesia s lake 2013 adaptations lakes 60 60% populations rods 23 2 3 2– inches inch 2022 4 stations 201 software features characteristics association pH DO temperature conductivity insitu situ TSS TP TN exsitu. exsitu ex situ. ex-situ differences C1, C1 C (C1 B1 B C3 C6 C5 B4. B4 . B4) plants pinnata location i.e 6 202 20 (C

Resumo Os peixes ciclídeos exibem radiações adaptativas rápidas com taxas de diversificação significativas em resposta à variabilidade ecológica, ou seja, oportunidade ecológica ou isolamento geográfico. A descoberta de uma espécie de ciclídeo Midas em Lago Batur, o maior lago vulcânico da Indonésia, relatada pela primeira vez em 2013, poderia representar tais adaptações. Os ciclídeos Midas agora podem ser encontrados em uma variedade de hábitats no Lago Batur, onde dominam a população de peixes em até 60%. Este estudo teve como objetivo identificar a interação entre hábitat, qualidade da água e ciclídeo Midas no Lago Batur, facilitando variações morfométricas nas populações de peixe. Os peixes foram capturados em cinco locais no Lago Batur usando varas de pesca, redes comunitárias com malhas de 2-3 polegadas, redes de emalhar experimentais com malhas de 1 polegada e colheres de peixe em gaiolas de rede flutuantes, durante agosto e novembro de 2022. Foram capturadas 46 amostras de peixes nas cinco estações, todas fotografadas com câmera digital e posteriormente medidas no software ZEN 2012. A medição dos peixes empregou um método morfométrico de treliça usando 21 características morfométricas distintas do corpo. A análise canônica foi utilizada para determinar a distribuição das características, enquanto a análise discriminante foi empregada para examinar a proximidade da associação. Os parâmetros de qualidade da água medidos incluíram pH, OD, temperatura, condutividade e TDS para in situ, e TSS, TP, TN e clorofila A para ex situ. As descobertas revelaram mudanças morfométricas entre as espécies de ciclídeos Midas no Lago Batur, causadas por diferenças de hábitat e qualidade da água. A distinção pode ser detectada nos corpos anterior e posterior (C1, B1, C3, C6, C5, B3 e B4). A temperatura e as plantas aquáticas, Azolla pinnata, podem detectar a estação e o formato dos peixes no Lago Batur. A forma do corpo não pode ser identificada pela clorofila A, TN, OD e TDS. Futuras pesquisas genéticas poderiam responder por que grupos de peixes com tipos corporais variados coexistem no mesmo local. seja geográfico Indonésia 2013 adaptações 60 60% pesca 23 2 3 2- polegadas flutuantes 2022 4 estações 2012 associação pH situ TSS TP C1, C1 C (C1 B1 B C3 C6 C5 B4. B4 . B4) aquáticas pinnata local 201 6 202 (C 20

Abstract An increase in genetic diversity of bread wheat caused by spring x winter forms leads to an alteration of genetic control of maturity time. Maturity time (MAT) is one of major yield components in wheat, which has two components: the heading date (HD) and grain-filling period (GFP). Using the Illumina Infinium 25k platform we analyzed the genetic control of the HD, GFP and MAT in the F2 and F2:3 populations from a cross between late-ripening spring/winter line 124-1 and spring wheat cultivar Novosibirskaya 31, possessing the same allelic composition of the VRN1 and PPD-D1 genes. The phenotypic evaluation of the populations studied was performed during three years. A total of 17 QTLs were mapped, out of which 4 QTLs for MAT or its components were confirmed over two years. Two common MAT and HD QTLs were identified on the 4A chromosome, and two loci controlling GFP and MAT were found on 6B chromosome. An environmentally stable HD QTL QHd.icg-7B.1 was associated with the FT-B1 gene having a non-synonymous polymorphism [G/C] in its coding region. A novel НD QTL was identified on 7D chromosome. QTL dissection allowed to propose putative genes for QMat.icg4-A and QMat.icg6-B, namely the SPL family gene (TraesCS4A02G359500) and the TCP transcription factor (TraesCS6B02G462100), respectively. The results of this study provide information for further investigation into wheat development. (MAT (HD grainfilling grain filling GFP. . (GFP) k F F23 3 F2: lateripening late ripening springwinter 1241 124 1 124- 31 VRN PPDD1 PPDD PPD D1 D PPD-D years mapped chromosome B QHd.icg7B.1 QHdicg7B1 QHdicgB QHd.icg 7B.1 QHd icg 7B QHd.icg-7B. FTB1 FTB FT B1 FT-B nonsynonymous non synonymous G/C GC G C [G/C region QMat.icg4A QMaticg4A QMaticgA QMat.icg4 QMat icg4 QMat.icg6B, QMaticg6B QMaticgB QMat.icg6 B, icg6 QMat.icg6-B TraesCS4A02G359500 TraesCSAG TraesCS (TraesCS4A02G359500 TraesCS6B02G462100, TraesCS6B02G462100 TraesCSBG , (TraesCS6B02G462100) respectively development (GFP 12 icg7B QHd.icg7B. QHdicg QHdicg7B 7B1 7B. QHd.icg-7B icg4A QMaticg QMaticg4 QMat.icg icg6B QMat.icg6B QMaticg6 TraesCS4A02G35950 (TraesCS4A02G35950 TraesCS6B02G46210 (TraesCS6B02G462100 icgB QHd.icg7B icgA TraesCS4A02G3595 (TraesCS4A02G3595 TraesCS6B02G4621 (TraesCS6B02G46210 TraesCS4A02G359 (TraesCS4A02G359 TraesCS6B02G462 (TraesCS6B02G4621 TraesCS4A02G35 (TraesCS4A02G35 TraesCS6B02G46 (TraesCS6B02G462 TraesCS4A02G3 (TraesCS4A02G3 TraesCS6B02G4 (TraesCS6B02G46 TraesCS4A02G (TraesCS4A02G TraesCS6B02G (TraesCS6B02G4 (TraesCS6B02G

Resumo O aumento na diversidade genética do trigo de pão, causado pela combinação de variedades de primavera e inverno, leva a uma alteração no controle genético do tempo de maturação. O tempo de maturação (MAT) é um dos principais componentes do rendimento do trigo, composto por dois elementos: a data de início (HD) e o período de enchimento do grão (GFP). Utilizando a plataforma Illumina Infinium 25k, analisamos o controle genético de HD, GFP e MAT nas populações F2 e F2:3 resultantes de um cruzamento entre a linhagem de primavera/inverno de maturação tardia 124-1 e a cultivar de trigo de primavera Novosibirskaya 31, que possuem a mesma composição alélica dos genes VRN1 e PPD-D1. A avaliação fenotípica das populações estudadas foi realizada ao longo de três anos. Mapeamos um total de 17 QTLs, dos quais 4 QTLs relacionados ao MAT ou seus componentes foram confirmados ao longo de dois anos. Identificamos dois QTLs comuns para MAT e HD no cromossomo 4A, e dois loci controladores de GFP e MAT foram encontrados no cromossomo 6B. Um QTL HD ambientalmente estável, QHd.icg-7B.1, foi associado ao gene FT-B1, que possui um polimorfismo não sinônimo [G/C] em sua região codificadora. Um novo QTL HD foi identificado no cromossomo 7D. A análise dos QTL permitiu propor genes putativos para QMat.icg4-A e QMat.icg6-B, nomeadamente o gene da família SPL (TraesCS4A02G359500) e o fator de transcrição TCP (TraesCS6B02G462100), respectivamente. Os resultados deste estudo fornecem informações para investigações posteriores sobre o desenvolvimento do trigo. pão inverno (MAT elementos (HD GFP. . (GFP) 25k k F F23 3 F2: primaverainverno 1241 124 1 124- 31 VRN PPDD1. PPDD1 PPDD PPD D1. D1 D PPD-D1 anos 4A 6B B estável QHd.icg7B.1, QHdicg7B1 QHdicgB QHd.icg 7B.1, QHd icg 7B QHd.icg-7B.1 FTB1, FTB1 FTB FT B1, B1 FT-B1 G/C GC G C [G/C codificadora 7D QMat.icg4A QMaticg4A QMaticgA QMat.icg4 QMat icg4 QMat.icg6B, QMaticg6B QMaticgB QMat.icg6 B, icg6 QMat.icg6-B TraesCS4A02G359500 TraesCSAG TraesCS (TraesCS4A02G359500 TraesCS6B02G462100, TraesCS6B02G462100 TraesCSBG , (TraesCS6B02G462100) respectivamente (GFP 12 PPD-D icg7B QHd.icg7B.1 QHdicg QHdicg7B 7B1 7B.1 QHd.icg-7B. FT-B icg4A QMaticg QMaticg4 QMat.icg icg6B QMat.icg6B QMaticg6 TraesCS4A02G35950 (TraesCS4A02G35950 TraesCS6B02G46210 (TraesCS6B02G462100 icgB QHd.icg7B. 7B. QHd.icg-7B icgA TraesCS4A02G3595 (TraesCS4A02G3595 TraesCS6B02G4621 (TraesCS6B02G46210 QHd.icg7B TraesCS4A02G359 (TraesCS4A02G359 TraesCS6B02G462 (TraesCS6B02G4621 TraesCS4A02G35 (TraesCS4A02G35 TraesCS6B02G46 (TraesCS6B02G462 TraesCS4A02G3 (TraesCS4A02G3 TraesCS6B02G4 (TraesCS6B02G46 TraesCS4A02G (TraesCS4A02G TraesCS6B02G (TraesCS6B02G4 (TraesCS6B02G

Abstract The work aims to analyze the associations of polymorphic variants of the PRL and BLG genes with resistance and susceptibility to mastitis in Holstein cows. The experimental study consisted of the selection of biomaterial samples from 250 heads of Holstein cows aged 3 years divided into two groups (healthy and with a confirmed diagnosis of mastitis). The determination of animal genotypes was carried out using polymerase chain reaction and restriction fragment length polymorphism. The study of the nature of the association of polymorphic variants of the PRL and BLG gene with resistance/increased risk of mastitis established a significant deviation from the theoretically expected distribution of bBLG-HaeIII genotypes in the group of animals suffering from mastitis (the value of χ2 was 0.24). The bBLG-HaeIIIBB genotype can act as a marker of an increased risk of developing mastitis in Holstein cows; its frequency in the group of sick animals exceeds the frequency in the control group by more than 2 times (44.0 compared to 17.0%, respectively). The bBLG-HaeIIIAB genotype is significantly associated with mastitis resistance in Holstein cows; its frequency is 2 times lower than in the control group (28.0 compared to 54.0%). 25 healthy mastitis. . mastitis) polymorphism resistanceincreased bBLGHaeIII bBLG HaeIII χ 0.24. 024 0.24 0 24 0.24) bBLGHaeIIIBB HaeIIIBB 44.0 440 44 (44. 170 17 17.0% respectively. respectively respectively) bBLGHaeIIIAB HaeIIIAB 28.0 280 28 (28. 54.0%. 540 54.0% 54 54.0%) 02 0.2 44. 4 (44 1 17.0 28. (28 54.0 5 0. (4 17. (2 54. (

Resumo O trabalho tem como objetivo analisar as associações de variantes polimórficas dos genes PRL e BLG com resistência e suscetibilidade à mastite em vacas holandesas. O estudo experimental consistiu na seleção de amostras de biomateriais de 250 cabeças de vacas holandesas com 3 anos de idade divididas em dois grupos (saudáveis e com diagnóstico confirmado de mastite). A determinação dos genótipos dos animais foi realizada utilizando reação em cadeia da polimerase e polimorfismo de comprimento de fragmentos de restrição. O estudo da natureza da associação de variantes polimórficas do gene PRL e BLG com resistência/risco aumentado de mastite estabeleceu um desvio significativo da distribuição teoricamente esperada dos genótipos bBLG-HaeIII no grupo de animais que sofrem de mastite (o valor de χ2 foi 0,24). O genótipo bBLG-HaeIIIBB pode atuar como marcador de risco aumentado de desenvolvimento de mastite em vacas holandesas; sua frequência no grupo de animais doentes excede a frequência no grupo controle em mais de duas vezes (44,0% contra 17,0%, respectivamente). O genótipo bBLG-HaeIIIAB está significativamente associado à resistência à mastite em vacas holandesas; sua frequência é duas vezes menor que no grupo controle (28,0% contra 54,0%). 25 saudáveis mastite. . mastite) restrição resistênciarisco bBLGHaeIII bBLG HaeIII o χ 0,24. 024 0,24 0 24 0,24) bBLGHaeIIIBB HaeIIIBB 44,0% 440 44 (44,0 170 17 17,0% respectivamente. respectivamente respectivamente) bBLGHaeIIIAB HaeIIIAB 28,0% 280 28 (28,0 54,0%. 540 54,0% 54 54,0%) 2 02 0,2 44,0 4 (44, 1 17,0 28,0 (28, 54,0 5 0, 44, (44 17, 28, (28 54, (4 (2 (

Resumo O gene do hormônio de crescimento (GH) desempenha um papel vital na regulação do metabolismo animal e do tamanho corporal, tornando-se um potencial candidato para influenciar o desempenho do gado. Este estudo teve como objetivo investigar os polimorfismos dentro do gene GH e suas associações com 10 características biométricas na população de gado Sumbawa da Indonésia. Dados de características biométricas e amostras de sangue foram coletados de 112 indivíduos de gado Sumbawa, e suas sequências genéticas do gene GH foram analisadas usando dois conjuntos de primers para amplificação. Sete polimorfismos de nucleotídeo único (SNPs) foram identificados no gene GH: g.442C>T, g.446G>C, g.558C>T, g.649C>A, g.1492C>A, g.1510C>A e g.1578G>A. Todos os SNPs estavam localizados na região intrônica, exceto o SNP g.558C>T, que foi encontrado na região da sequência de codificação (CDS). O SNP g.558C>T é classificado como uma variante sinônima. A análise de haplótipos revelou um forte desequilíbrio de ligação entre os SNPs g.558C>T e g.649C>A. As distribuições de genótipos e alelos de todos os SNPs estavam de acordo com o equilíbrio de Hardy-Weinberg (p > 0,05, χ2 < 15,56), exceto para os SNPs g.446G>C e g.1492C>A. O estudo de associação mostrou que o SNP g.442C>T afetou significativamente (p < 0,05) as características HL, BL, SH e PH no gado Sumbawa. Além disso, o g.446G>C e o g.558C>T também foram encontrados associados às características PH e CC, respectivamente. Os polimorfismos detectados no gene GH podem ter implicações para programas de seleção visando melhorar as características biométricas desejadas no gado Sumbawa. A melhoria da produtividade pecuária pode ser feita através da compreensão da diversidade genética e sua relação com as características fenotípicas. (GH corporal tornandose tornando se 1 Indonésia 11 amplificação (SNPs g442CT gCT g 442C T C g446GC gGC 446G G g558CT 558C g649CA gCA 649C g.649C>A g1492CA 1492C g.1492C>A g1510CA 1510C g1578GA gGA 1578G g.1578G>A intrônica CDS. CDS . (CDS) sinônima HardyWeinberg Hardy Weinberg p 005 0 05 0,05 χ 15,56, 1556 15,56 , 15 56 15,56) HL BL disso CC respectivamente fenotípicas CT GC CA GA (CDS 00 0,0 155 15,5 5 0, 15,

Abstract The growth hormone (GH) gene plays a vital role in regulating animal metabolism and body size, making it a potential candidate for influencing livestock performance. This study aimed to investigate the polymorphisms within the GH gene and their associations with 10 biometric traits in the Sumbawa cattle population of Indonesia. Biometric trait data and blood samples were collected from 112 Sumbawa cattle individuals, and their GH gene sequences were analyzed using two sets of primers for amplification. Seven single nucleotide polymorphisms (SNPs) were identified in the GH gene: g.442C>T, g.446G>C, g.558C>T, g.649C>A, g.1492C>A, g.1510C>A, and g.1578G>A. All SNPs were located in the intronic region except for SNP g.558C>T, which was found in the coding sequence (CDS) region. The SNP g.558C>T is classified as a synonymous variant. Haplotype analysis revealed a strong linkage disequilibrium between SNPs g.558C>T and g.649C>A. Distributions of genotypes and alleles of all SNPs were in agreement with the Hardy-Weinberg equilibrium (p > 0.05, χ2 < 15.56), except for SNPs g.446G>C and g.1492C>A. The association study showed that the SNP g.442C>T significantly (p < 0.05) affected HL, BL, SH, and PH traits in Sumbawa cattle. Additionally, the g.446G>C and g.558C>T were also found to be associated with PH and CC traits, respectively. The polymorphisms detected in the GH gene could have implications for selection programs to enhance desired biometric traits in Sumbawa cattle. Improving livestock productivity can be done by understanding genetic diversity and its relationship with phenotypic characteristics. (GH size performance 1 Indonesia 11 individuals amplification (SNPs g442CT gCT g 442C T C g446GC gGC 446G G g558CT 558C g649CA gCA 649C A g.649C>A g1492CA 1492C g.1492C>A g1510CA 1510C g.1510C>A g1578GA gGA 1578G g.1578G>A CDS (CDS variant HardyWeinberg Hardy Weinberg p 005 0 05 0.05 χ 15.56, 1556 15.56 , 15 56 15.56) HL BL SH Additionally respectively characteristics CT GC CA GA 00 0.0 155 15.5 5 0. 15.