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1.
Braz. j. biol ; 84: e255235, 2024. tab, graf
Article in English | LILACS, VETINDEX | ID: biblio-1355897

ABSTRACT

Abstract In soybean breeding program, continuous selection pressure on traits response to yield created a genetic bottleneck for improvements of soybean through hybridization breeding technique. Therefore an initiative was taken to developed high yielding soybean variety applying mutation breeding techniques at Plant Breeding Division, Bangladesh Institute of Nuclear Agriculture (BINA), Bangladesh. Locally available popular cultivar BARI Soybean-5 was used as a parent material and subjected to five different doses of Gamma ray using Co60. In respect to seed yield and yield attributing characters, twelve true breed mutants were selected from M4 generation. High values of heritability and genetic advance with high genotypic coefficient of variance (GCV) for plant height, branch number and pod number were considered as favorable attributes for soybean improvement that ensure expected yield. The mutant SBM-18 obtained from 250Gy provided stable yield performance at diversified environments. It provided maximum seed yield of 3056 kg ha-1 with highest number of pods plant-1 (56). The National Seed Board of Bangladesh (NSB) eventually approved SBM-18 and registered it as a new soybean variety named 'Binasoybean-5' for large-scale planting because of its superior stability in various agro-ecological zones and consistent yield performance.


Resumo No programa de melhoramento da soja, a pressão pela seleção contínua para a resposta das características de rendimento criou um gargalo genético para melhorias da soja por meio da técnica de melhoramento por hibridação. Portanto, foi desenvolvida uma variedade de soja de alto rendimento, aplicando técnicas de reprodução por mutação, na Divisão de Melhoramento de Plantas, no Instituto de Agricultura Nuclear de Bangladesh (BINA), em Bangladesh. A cultivar popular BARI Soybean-5, disponível localmente, foi usada como material original e submetida a cinco doses diferentes de raios gama usando Co60. Em relação ao rendimento de sementes e às características de atribuição de rendimento, 12 mutantes genuínos foram selecionados a partir da geração M4. Altos valores de herdabilidade e avanço genético com alto coeficiente de variância genotípico (GCV) para altura da planta, número de ramos e número de vagens foram considerados atributos favoráveis ​​ao melhoramento da soja, garantindo, assim, a produtividade esperada. O mutante SBM-18, obtido a partir de 250Gy, proporcionou desempenho de rendimento estável em ambientes diversificados e produtividade máxima de sementes de 3.056 kg ha-1 com o maior número de vagens planta-1 (56). O Conselho Nacional de Sementes de Bangladesh (NSB) finalmente aprovou o SBM-18 e o registrou como uma nova variedade de soja, chamada 'Binasoybean-5', para plantio em larga escala por causa de sua estabilidade superior em várias zonas agroecológicas e desempenho de rendimento consistente.


Subject(s)
Soybeans/growth & development , Soybeans/genetics , Phenotype , Bangladesh , Plant Breeding , Genotype , Mutation
2.
Braz. j. biol ; 84: e256933, 2024. tab, ilus
Article in English | LILACS, VETINDEX | ID: biblio-1364505

ABSTRACT

Anticarsia gemmatalis Hünber, 1818 is one of the main defoliating species in the soybean crop. Bacillus thuringiensis Berliner, 1915, is a bacterium used in the biological control of this pest species. Resistant populations and their sublethal effects caused by the use of the bacteria have already been reported; however, there are no studies on phenotypic plasticity in adulthood exposed to Bt-based bioinsecticide sub-doses. This study aimed to evaluate the morphometry of A. gemmatalis adults under laboratory conditions submitted to the Bt-based bioinsecticide Dipel® over the three generations. The body segments mensuread were width, length, and area of the anterior and posterior wings, the weight of the integument, chest, abdomen, wings, and the whole adult of males and females. Among the treatments, LC5 in the first generation and LC10 in the second generation were those with lower thresholds in relation to the weight of the chest and abdomen, considering the proportions of the body smaller than the females. The female's weight adulthood was reduced by 10% about males, and, only in the first generation. Males have larger body size and more pronounced phenotypic plasticity than females. Here, we demonstrate the first study assessing the phenotypic plasticity of A. gemmatalis adults.


Anticarsia gemmatalis Hünber, 1818 é uma das principais espécies desfolhadoras da cultura da soja. Bacillus thuringiensis Berliner, 1915, é uma bactéria utilizada no controle biológico dessa espécie de praga. Populações resistentes e seus efeitos subletais causados pelo uso da bactéria já foram relatados, no entanto, não há estudos sobre a plasticidade fenotípica na idade adulta exposta a subdoses de bioinseticida à base de Bt. Este trabalho teve como objetivo avaliar a morfometria de adultos de A. gemmatalis em condições de laboratório submetidos ao bioinseticida Dipel® ao longo de três gerações. Os segmentos corporais mensuráveis eram largura, comprimento e área das asas anterior e posterior, o peso do tegumento, tórax, abdômen, asas e todo o adulto de machos e fêmeas. Dentre os tratamentos, CL5 na primeira geração e CL10 na segunda geração foram aqueles com limiares mais baixos em relação ao peso do tórax e abdômen, considerando as proporções do corpo menores que as do sexo feminino. O peso da fêmea na idade adulta foi reduzido em 10% em relação aos machos e, apenas na primeira geração. Os machos têm tamanho corporal maior e plasticidade fenotípica mais pronunciada do que as fêmeas. Este estudo demonstra o primeiro estudo avaliando a plasticidade fenotípica de adultos de A. gemmatalis.


Subject(s)
Animals , Phenotype , Soybeans , Bacillus thuringiensis , Pest Control, Biological
3.
Int. j. morphol ; 40(3): 760-767, jun. 2022. ilus
Article in English | LILACS-Express | LILACS | ID: biblio-1385669

ABSTRACT

SUMMARY: Atherosclerosis is a complex disease whose pathogenesis includes endothelial activation, accumulation of lipids in the subendothelium, formation of foam cells, fat bands and formation of atherosclerotic plaque. These complex mechanisms involve different cell populations in the intimate sub-endothelium, and the S-100 protein family plays a role in a number of extracellular and intracellular processes during the development of atherosclerotic lesions. The aim of this study was to determine the phenotypic characteristics of smooth muscle cells and the consequent expression of S100 protein in atherosclerotic altered coronary arteries in advanced stages of atherosclerosis. 19 samples of right atherosclerotic coronary arteries in stages of fibro atheroma (type V lesion) and complicated lesions (type VI lesion) have been analyzed. According to the standard protocol, the following primary antibodies have been used in the immunohistochemical analysis: a-smooth muscle actin (α-SMA), vimentin and S-100 protein. All analyzed samples have been in advanced stages of atherosclerosis, fibro atheroma (stage V lesions) and complicated lesions (type VI lesions). Most of them have had the structure of a complicated lesion with atheroma or fibro atheroma as a basis, subsequently complicated by disruption (subtype VI a), hemorrhage (subtype VI b) or thrombosis (subtype VI c), as well as by the presence of several complications on the same sample. Marked hypocellularity is present in the subendothelium of plaques. Cell population at plaque margins is characterized by immunoreactivity to α-SMA, vimentin, and S100 protein. Some of these cells accumulate lipids and look like foam cells. In the cell population at the margins of the plaques, smooth muscle cells of the synthetic phenotype are present, some of which accumulate lipids and demonstrate S100 immunoreactivity. Summarizing numerous literature data and our results, we could assume that smooth muscle cells, due to their synthetic and proliferative activity in the earlier stages of pathogenesis, as well as the consequent expression of S100 protein, could accumulate lipids in the earlier stages of atherosclerosis which, in advanced stages analyzed in this study, result in immunoreactivity of foam cells of smooth muscle origin to S100 protein.


RESUMEN: La aterosclerosis es una enfermedad compleja cuya patogenia incluye activación endotelial, acumulación de lípidos en el subendotelio, formación de células espumosas, bandas grasas y formación de placa aterosclerótica. Estos complejos mecanismos involucran diferentes poblaciones celulares en el subendotelio íntimo, y la familia de proteínas S-100 juega un papel en varios procesos extracelulares e intracelulares durante el desarrollo de lesiones ateroscleróticas. El objetivo de este estudio fue determinar las características fenotípicas de las células de músculo liso y la consecuente expresión de la proteína S100 en arterias coronarias alteradas ateroscleróticas en estadios avanzados de aterosclerosis. Se analizaron 19 muestras de arterias coronarias ateroscleróticas derechas en estadios de fibroateroma (lesión tipo V) y lesiones complicadas (lesión tipo VI). Según el protocolo estándar, en el análisis inmunohistoquímico se utilizaron los siguientes anticuerpos primarios: α-actina de músculo liso (α-SMA), vimentina y proteína S-100. Todas las muestras analizadas han estado en estadios avanzados de aterosclerosis, fibroateroma (lesiones estadio V) y lesiones complicadas (lesiones tipo VI). La mayoría de ellos han tenido la estructura de una lesión complicada con ateroma o fibroateroma como base, complicada posteriormente por disrupción (subtipo VI a), hemorragia (subtipo VI b) o trombosis (subtipo VI c), así como por la presencia de varias complicaciones en la misma muestra. La hipocelularidad marcada estaba presente en el subendotelio de las placas. La población celular en los márgenes de la placa se caracterizaba por inmunorreactividad a α-SMA, vimentina y proteína S100. Algunas de estas células acumulan lípidos y parecen células espumosas. En la población celular en los márgenes de las placas, estaban presentes las células de músculo liso de fenotipo sintético, algunas de las cuales acumulaban lípidos y mostraban inmunorreactividad S100. Resumiendo numerosos datos de la literatura y nuestros resultados, podríamos suponer que las células del músculo liso, debido a su actividad sintética y proliferativa en las primeras etapas de la patogénesis, así como la consecuente expresión de la proteína S100, podrían acumular lípidos en las primeras etapas de la aterosclerosis que, en estadios avanzados analizados en este estudio, dan como resultado inmunorreactividad de células espumosas de origen muscular liso a la proteína S100.


Subject(s)
Humans , Coronary Artery Disease/metabolism , S100 Proteins/metabolism , Myocytes, Smooth Muscle/metabolism , Phenotype
4.
Biomédica (Bogotá) ; 42(supl.1): 130-143, mayo 2022. tab, graf
Article in Spanish | LILACS | ID: biblio-1394001

ABSTRACT

Introducción. El síndrome de Usher es una alteración genética caracterizada por la asociación de retinitis pigmentaria y sordera. Sin embargo, hay casos con familias en las cuales, a pesar de presentarse dicha asociación, no se puede diagnosticar un síndrome de Usher ni ninguno otro. Objetivo. Reevaluar fenotípicamente a 103 familias con diagnóstico previo de posible síndrome de Usher o retinitis pigmentaria asociada con sordera. Materiales y métodos. Se revisaron las historias clínicas de 103 familias con un posible diagnóstico clínico de síndrome de Usher o retinitis pigmentaria asociada con sordera. Se seleccionaron las familias cuyo diagnóstico clínico no correspondía a un síndrome de Usher típico. Los afectados fueron valorados oftalmológica y audiológicamente. Se analizaron variables demográficas y clínicas. Resultados. Se reevaluaron 14 familias cuyo diagnóstico clínico no correspondía al de síndrome de Usher. De las familias con diagnóstico inicial de síndrome de Usher típico, el 13,6 % recibieron uno posterior de "retinitis pigmentaria asociada con sordera" de "otro síntoma ocular asociado con hipoacusia',' o en forma aislada en una misma familia, de "retinitis pigmentaria" o "hipoacusia'.' Conclusiones. Es fundamental el estudio familiar en los casos en que la clínica no concuerda con el diagnóstico de síndrome de Usher típico. En los pacientes con retinitis pigmentaria asociada con sordera, el diagnóstico clínico acertado permite enfocar los análisis moleculares y, así, establecer un diagnóstico diferencial. Es necesario elaborar guías de nomenclatura en los casos con estos hallazgos atípicos para orientar a médicos e investigadores en cuanto a su correcto manejo.


Introduction: There are several syndromes that associate retinitis pigmentosa with deafness or hearing loss. The most frequent is Usher syndrome, a genetic disorder of autosomal recessive inheritance, which, in some cases, is accompanied by vestibular dysfunction. However, there are cases of families that despite having retinitis pigmentosa associated with deafness, cannot be classified as Usher or other syndromes due to additional findings. Objective: To reassess the phenotypes of 103 families previously diagnosed as possible Usher syndrome and/or retinitis pigmentosa associated with deafness. Materials and methods: We conducted a descriptive and retrospective study by reviewing the medical records of 103 families with a probable clinical diagnosis of Usher syndrome and/or retinitis pigmentosa associated with deafness. Families whose clinical diagnosis did not correspond to the typical Usher syndrome were selected and evaluated ophthalmologically and audiologically. Demographic and clinical variables were analyzed. Results: We selected and then reevaluated 14 families and 55 individuals as they did not correspond to a clinical diagnosis of Usher syndrome; 13.6% of the families initially considered to have typical Usher syndrome were later diagnosed with retinitis pigmentosa associated with deafness, another ocular symptom associated with hearing loss, retinitis pigmentosa, or isolated hearing loss in the same family. Conclusions: Family studies are essential in cases where the symptoms do not match the typical Usher' syndrome. In the cases of retinitis pigmentosa associated with deafness, a correct clinical diagnosis allows for focusing on the molecular analyses to establish a differential diagnosis. The need for nomenclature guidelines on these atypical findings is relevant to aid physicians and researchers in the best approach to these cases.


Subject(s)
Retinitis Pigmentosa , Phenotype , Clinical Diagnosis , Usher Syndromes , Deaf-Blind Disorders , Hearing Loss
5.
Bol. latinoam. Caribe plantas med. aromát ; 21(2): 242-255, mar. 2022. tab, ilus
Article in English | LILACS | ID: biblio-1395298

ABSTRACT

The species Lippia integrifolia is an aromatic, sub-woody shrub, distributed from Northwest and Central Argentina to Bolivia. It is among the most important native aromatic species. It presents medicinal properties, some of which have been scientifically proven. As an alternative to harvesting, the process of domestication of the species was initiated. The objective of this work was to assess the phenotypic variability based on botanical-taxonomic and morpho-agronomic descriptors and the use of indicators to evaluate its natural situation in the west-center of Argentina. We worked in five wild populations, registering morphological variables, phenology, natural regeneration, herbivory and presence of diseases. L. integrifoliapresents a wide morphological variability, which can be explained with three morphological descriptors. Natural regeneration ́s rate is very low to zero, in four of the sites. The results obtained are of importance to make decisions related to the sustainable use in situ, and to begin a program of domestication of the species.


La especie Lippia integrifolia es un arbusto aromático, sub-leñoso, distribuido desde el noroeste y centro de Argentina hasta Bolivia. Es una de las especies aromáticas nativas más importantes. Presenta propiedades medicinales, algunas de las cuales han sido científicamente probadas. Como alternativa a la cosecha, se inició el proceso de domesticación de la especie. El objetivo de este trabajo fue evaluar la variabilidad fenotípica basada en descriptores botánico-taxonómicos y morfo-agronómicos y el uso de indicadores para evaluar su situación natural en el centro-oeste de Argentina. Trabajamos en cinco poblaciones silvestres, registrando variables morfológicas, fenología, regeneración natural, herviboría y presencia de enfermedades. L. integrifolia presenta una amplia variabilidad morfológica, que puede explicarse con tres descriptores morfológicos. La tasa de regeneración natural es muy baja a cero, en cuatro de los sitios. Los resultados obtenidos son importantes para tomar decisiones relacionadas con el uso sostenible in situ y para comenzar un programa de domesticación de la especie.


Subject(s)
Lippia/anatomy & histology , Phenotype , Argentina , Plants, Medicinal/anatomy & histology , Agricultural Cultivation , Verbenaceae/anatomy & histology , Biological Variation, Population
6.
Arq. bras. cardiol ; 118(3): 625-633, mar. 2022. tab, graf
Article in English, Portuguese | LILACS | ID: biblio-1364342

ABSTRACT

Resumo Fundamento O tecido adiposo epicárdico (TAE) é aumentado em comorbidades comuns na insuficiência cardíaca (IC). Dessa forma, o TAE teria o potencial de mediar efeitos que levam à deterioração da função cardíaca. Objetivos Esta metanálise tem o objetivo de investigar se a quantidade de TAE em todos os tipos de IC e cada tipo de IC são significativamente diferentes dos pacientes de controle. Métodos Esta metanálise seguiu as diretrizes da Meta-analysis of Observational Studies in Epidemiology (Metanálise de estudos observacionais em epidemiologia). A pesquisa foi realizada nos bancos de dados MEDLINE, Embase e Lilacs até novembro de 2020. Dois autores realizaram a triagem, a extração de dados e a avaliação de qualidade. Um p-valor <0,05 foi definido como estatisticamente significativo. Resultados Foram incluídos oito estudos observacionais, compreendendo 1248 pacientes no total, dos quais 574 eram de controle, 415 tinham IC com fração de ejeção reduzida (ICFER) e 259 tinham IC com fração de ejeção de faixa média ou preservada (ICFEfm ou ICFEP). A quantidade de TAE não era diferente entre todos os tipos de IC e o grupo de controle (DMP = -0,66, IC 95%: -1,54 a 0,23, p =0,14) . Analisando cada fenótipo de IC separadamente, pacientes com ICFER tinham TAE reduzido em comparação aos pacientes de controle (DMP = 1,27, IC 95%: - 1,87 a -0,67, p <0,0001), enquanto os pacientes com ICFEfm ou ICFEP tiveram TAE aumentado em comparação aos pacientes de controle (DMP = 1,24, IC 95%: 0,99 a 1,50, p <0,0001). Conclusão A quantidade de TAE não era significativamente diferente entre todos os tipos de IC e o grupo de controle. Em pacientes com ICFER o volume de TAE era reduzido, enquanto em pacientes com ICFEP e ICFEfm, a quantidade de TAE era significativamente aumentada. Número de registro PROSPERO: CRD42019134441.


Abstract Background Epicardial adipose tissue (EAT) is increased in comorbidities common in heart failure (HF). In this sense, EAT could potentially mediate effects that lead to an impaired cardiac function. Objectives This meta-analysis aims to investigate if the amount of EAT in all-types of HF and each HF phenotype is significantly different from control patients. Methods This meta-analysis followed the Meta-analysis Of Observational Studies in Epidemiology guidelines. The search was performed in the MEDLINE, Embase, and Lilacs databases until November 2020. Two authors performed screening, data extraction, and quality assessment. A p-value <0.05 was defined as statistically significant. Results Eight observational studies were included, comprehending 1,248 patients in total, from which 574 were controls, 415 had HF with reduced ejection fraction (HFrEF) and 259 had HF with mid-range or preserved ejection fraction (HFmrEF or HFpEF). The amount of EAT was not different between all types of HF and the control group (SMD = -0.66, 95% CI: -1.54 to 0.23, p =0.14). Analyzing each HF phenotype separately, patients with HFrEF had a reduced EAT when compared to the controls (SMD= -1.27, 95% CI: - 1.87 to -0.67, p <0.0001), while patients with HFmrEF or HFpEF showed an increased EAT when compared to controls (SMD= 1.24, 95% CI: 0.99 to 1.50, p <0.0001). Conclusion The amount of EAT was not significantly different between all types of HF and the control group. In patients with HFrEF, the EAT volume was reduced, whereas in HFpEF and HFmrEF, the amount of EAT was significantly increased. PROSPERO registration number: CRD42019134441.


Subject(s)
Humans , Heart Failure , Phenotype , Prognosis , Stroke Volume , Adipose Tissue , Observational Studies as Topic
7.
Braz. j. biol ; 82: e253864, 2022. tab
Article in English | LILACS, VETINDEX | ID: biblio-1350300

ABSTRACT

Abstract Wheat breeders frequently use generation mean analysis to obtain information on the type of gene action involved in inheriting a trait to choose the helpful breeding procedure for trait improvement. The present study was carried out to study the inter-allelic and intra-allelic gene action and inheritance of glaucousness, earliness and yield traits in a bread wheat cross between divergent parents in glaucousness and yield traits; namely Mut-2 (P1) and Sakha 93 (P2). The experimental material included six populations, i.e. P1, P2, F1, F2, BC1, and BC2 for this wheat cross. A randomized complete block design with three replications was used, and a six parameters model was applied. Additive effects were generally more critical than dominance for all studied traits, except for plant height (PH) and grain yield/plant (GYPP). The duplicate epistasis was observed in spike length; SL, spikes/plant; SPP and days to heading; DTH. All six types of allelic and non-allelic interaction effects controlled SL, GYPP, DTH and glaucousness. All three types of epistasis, i.e. additive x additive, additive x dominance, and dominance x dominance, are essential in determining the inheritance of four traits (SL, GYPP, DTH and glaucousness). Dominance × dominance effects were higher in magnitude than additive × dominance and additive × additive in most traits. The average degree of dominance was minor than unity in six traits (glaucousness, grains/spike, spike weight, days to maturity, 100-grain weight and SL), indicating partial dominance and selection for these traits might be more effective in early generations. Meanwhile, the remaining traits (PH, SPP, GYPP and DTH) had a degree of dominance more than unity, indicating that overdominance gene effects control such traits and it is preferable to postpone selection to later generations. The highest values of narrow-sense heritability and genetic advance were recorded by glaucousness trait followed by SL and SPP, indicating that selection in segregating generations would be more effective than other traits.


Resumo Os criadores de trigo frequentemente usam a análise da média de geração para obter informações sobre o tipo de ação do gene envolvida na herança de uma característica para escolher o procedimento de melhoramento útil para o aprimoramento da característica. O presente estudo foi conduzido para estudar a ação do gene interalélico e intraalélico e a herança de características de glaucosidade, precocidade e produção em um cruzamento de trigo mole entre pais divergentes em glaucosidade e características de produção; nomeadamente Mut-2 (P1) e Sakha 93 (P2). O material experimental incluiu seis populações, ou seja, P1, P2, F1, F2, BC1 e BC2 para este cruzamento de trigo. O delineamento experimental foi em blocos ao acaso com três repetições e aplicado um modelo de seis parâmetros. Os efeitos aditivos foram geralmente mais críticos do que a dominância para todas as características estudadas, exceto para altura da planta (AP) e rendimento de grãos / planta (GYPP). A epistasia duplicada foi observada no comprimento da ponta; SL, espigas/planta; SPP e dias para o cabeçalho; DTH. Todos os seis tipos de efeitos de interação alélica e não alélica controlaram SL, GYPP, DTH e glaucosidade. Todos os três tipos de epistasia, ou seja, aditivo x aditivo, aditivo x dominância e dominância x dominância, são essenciais na determinação da herança de quatro características (SL, GYPP, DTH e glaucosidade). Os efeitos de dominância × dominância foram maiores em magnitude do que aditivo × dominância e aditivo × aditivo na maioria das características. O grau médio de dominância foi menor do que a unidade em seis características (glaucosidade, grãos / espiga, peso da espiga, dias até a maturidade, peso de 100 grãos e SL), indicando dominância parcial, e a seleção para essas características pode ser mais eficaz nas gerações iniciais. Enquanto isso, os traços restantes (PH, SPP, GYPP e DTH) tiveram um grau de dominância maior do que a unidade, indicando que os efeitos do gene de superdominância controlam tais traços e é preferível adiar a seleção para gerações posteriores. Os maiores valores de herdabilidade no sentido restrito e avanço genético foram registrados pelo traço de glaucosidade seguido por SL e SPP, indicando que a seleção em gerações segregadas seria mais eficaz do que outros caracteres.


Subject(s)
Triticum/genetics , Bread , Phenotype , Crosses, Genetic
8.
Braz. j. biol ; 82: e240199, 2022. tab, graf
Article in English | LILACS, VETINDEX | ID: biblio-1278495

ABSTRACT

Abstract One of the most important traits that plant breeders aim to improve is grain yield which is a highly quantitative trait controlled by various agro-morphological traits. Twelve morphological traits such as Germination Percentage, Days to Spike Emergence, Plant Height, Spike Length, Awn Length, Tillers/Plant, Leaf Angle, Seeds/Spike, Plant Thickness, 1000-Grain Weight, Harvest Index and Days to Maturity have been considered as independent factors. Correlation, regression, and principal component analysis (PCA) are used to identify the different durum wheat traits, which significantly contribute to the yield. The necessary assumptions required for applying regression modeling have been tested and all the assumptions are satisfied by the observed data. The outliers are detected in the observations of fixed traits and Grain Yield. Some observations are detected as outliers but the outlying observations did not show any influence on the regression fit. For selecting a parsimonious regression model for durum wheat, best subset regression, and stepwise regression techniques have been applied. The best subset regression analysis revealed that Germination Percentage, Tillers/Plant, and Seeds/Spike have a marked increasing effect whereas Plant thickness has a negative effect on durum wheat yield. While stepwise regression analysis identified that the traits, Germination Percentage, Tillers/Plant, and Seeds/Spike significantly contribute to increasing the durum wheat yield. The simple correlation coefficient specified the significant positive correlation of Grain Yield with Germination Percentage, Number of Tillers/Plant, Seeds/Spike, and Harvest Index. These results of correlation analysis directed the importance of morphological characters and their significant positive impact on Grain Yield. The results of PCA showed that most variation (70%) among data set can be explained by the first five components. It also identified that Seeds/Spike; 1000-Grain Weight and Harvest Index have a higher influence in contributing to the durum wheat yield. Based on the results it is recommended that these important parameters might be considered and focused in future durum wheat breeding programs to develop high yield varieties.


Resumo Uma das características mais importantes que os produtores de plantas visam melhorar é o rendimento de grãos, que é uma particularidade altamente quantitativa e controlada por várias características agromorfológicas. Foram considerados 12 traços morfológicos como fatores independentes, como Porcentagem de Germinação, Dias para Emergência da Espiga, Altura da Planta, Comprimento da Espiga, Comprimento da Aresta, Perfilhos /Planta, Ângulo da Folha, Sementes /Espiga, Espessura da Planta, Peso de 1000 Grãos, Índice de Colheita e Dias até a Maturidade,. A correlação, regressão e análise de componentes principais (em inglês Principal Component Analysis (PCA)) são usadas para identificar as diferentes características do trigo duro, que contribuem significativamente para o rendimento. As suposições necessárias exigidas para a aplicação da modelagem de regressão foram testadas e todas as suposições são adequadas de acordo com os dados observados. Os outliers são detectados nas observações de características fixas e rendimento de grãos. Algumas observações são detectadas como outliers, mas as observações outliers não mostraram qualquer influência no ajuste da regressão. Para selecionar um modelo de regressão parcimonioso para o trigo duro, foram aplicadas tanto a melhor regressão de subconjunto quanto as técnicas de regressão stepwise. A melhor análise de regressão de subconjunto revelou que a porcentagem de germinação, perfilhos /planta e sementes /espiga tem um efeito de aumento acentuado, enquanto a espessura da planta tem um efeito negativo sobre o rendimento do trigo duro. Enquanto a análise de regressão passo a passo identificou que as características, porcentagem de germinação, perfilhos/planta e sementes /espiga contribuem significativamente para aumentar a produtividade do trigo duro. O coeficiente de correlação simples especificou a correlação positiva significativa do rendimento de grãos com a porcentagem de germinação, número de perfilhos/planta, sementes / espiga e índice de colheita. Esses resultados da análise de correlação direcionaram a importância dos caracteres morfológicos e seu impacto positivo e significativo no rendimento de grãos. Os resultados da PCA mostraram que a maior parte da variação (70%) entre o conjunto de dados pôde ser explicada pelos cinco primeiros componentes. Também identificou que Sementes / Espiga, Peso de 1000 Grãos e Índice de Colheita têm uma maior influência na contribuição para o rendimento do trigo duro. Com base nos resultados, recomenda-se que esses importantes parâmetros possam ser considerados e focados em futuros programas de melhoramento de trigo duro para desenvolver variedades de alto rendimento.


Subject(s)
Triticum , Plant Breeding , Pakistan , Phenotype , Seeds
9.
Braz. j. biol ; 82: e250700, 2022.
Article in English | LILACS, VETINDEX | ID: biblio-1278476

ABSTRACT

Abstract The mutations are genetic changes in the genome sequences and have a significant role in biotechnology, genetics, and molecular biology even to find out the genome sequences of a cell DNA along with the viral RNA sequencing. The mutations are the alterations in DNA that may be natural or spontaneous and induced due to biochemical reactions or radiations which damage cell DNA. There is another cause of mutations which is known as transposons or jumping genes which can change their position in the genome during meiosis or DNA replication. The transposable elements can induce by self in the genome due to cellular and molecular mechanisms including hypermutation which caused the localization of transposable elements to move within the genome. The use of induced mutations for studying the mutagenesis in crop plants is very common as well as a promising method for screening crop plants with new and enhanced traits for the improvement of yield and production. The utilization of insertional mutations through transposons or jumping genes usually generates stable mutant alleles which are mostly tagged for the presence or absence of jumping genes or transposable elements. The transposable elements may be used for the identification of mutated genes in crop plants and even for the stable insertion of transposable elements in mutated crop plants. The guanine nucleotide-binding (GTP) proteins have an important role in inducing tolerance in rice plants to combat abiotic stress conditions.


Resumo Mutações são alterações genéticas nas sequências do genoma e têm papel significativo na biotecnologia, genética e biologia molecular, até mesmo para descobrir as sequências do genoma de um DNA celular junto com o sequenciamento do RNA viral. As mutações são alterações no DNA que podem ser naturais ou espontâneas e induzidas devido a reações bioquímicas ou radiações que danificam o DNA celular. Há outra causa de mutações, conhecida como transposons ou genes saltadores, que podem mudar sua posição no genoma durante a meiose ou a replicação do DNA. Os elementos transponíveis podem induzir por si próprios no genoma devido a mecanismos celulares e moleculares, incluindo hipermutação que causou a localização dos elementos transponíveis para se moverem dentro do genoma. O uso de mutações induzidas para estudar a mutagênese em plantas cultivadas é muito comum, bem como um método promissor para a triagem de plantas cultivadas com características novas e aprimoradas para a melhoria da produtividade e da produção. A utilização de mutações de inserção por meio de transposons ou genes saltadores geralmente gera alelos mutantes estáveis ​​que são marcados quanto à presença ou ausência de genes saltadores ou elementos transponíveis. Os elementos transponíveis podem ser usados ​​para a identificação de genes mutados em plantas de cultivo e até mesmo para a inserção estável de elementos transponíveis em plantas de cultivo mutadas. As proteínas de ligação ao nucleotídeo guanina (GTP) têm papel importante na indução de tolerância em plantas de arroz para combater as condições de estresse abiótico.


Subject(s)
Oryza/genetics , Phenotype , DNA Transposable Elements/genetics , Gene Expression , Guanosine Triphosphate
10.
Article in Chinese | WPRIM | ID: wpr-928647

ABSTRACT

OBJECTIVES@#To study the clinical phenotype and genetic features of 16p11.2 microdeletion-related epilepsy in children.@*METHODS@#The medical data of 200 children with epilepsy who underwent a genetic analysis of epilepsy by the whole exon sequencing technology were collected retrospectively, of whom 9 children with epilepsy had 16p11.2 microdeletion. The clinical phenotype and genetic features of the 9 children with 16p11.2 microdeletion were analyzed.@*RESULTS@#The detection rate of 16p11.2 microdeletion was 4.5% (9/200). The 9 children with 16p11.2 microdeletion were 3-10 months old. They experienced focal motor seizures with consciousness disturbance, and some of the seizures developed into generalized tonic-clonic seizures. The interictal electroencephalogram showed focal or multifocal epileptiform discharge, and all 9 children responded well to antiepileptic drugs. The 9 children had a 16p11.2 deletion fragment size of 398-906 kb, and the number of deleted genes was 23-33 which were all pathogenic mutations. The mutation was of maternal origin in 2 children, of paternal origin in 1 child, and de novo in the other children.@*CONCLUSIONS@#16p11.2 microdeletion can be detected in some children with epilepsy. Most of the 16p11.2 microdeletion is de novo mutation and large gene fragment deletion. The onset of 16p11.2 microdeletion-related epilepsy in children is mostly within 1 year of life, and the epilepsy is drug-responsive.


Subject(s)
Anticonvulsants , Epilepsy/genetics , Humans , Phenotype , Retrospective Studies , Seizures/genetics
11.
Article in Chinese | WPRIM | ID: wpr-928456

ABSTRACT

OBJECTIVE@#To explore the molecular reasons of weak expression of B antigen on the red cell.@*METHODS@#Serological test for blood group was carried out, including red cell and plasma grouping, and anti-A1 and anti-H testing, and confirming weak A or B antigens by adsorption and elution. Exons 1-7 were sequenced directly, and one of them was cloned and sequenced.@*RESULTS@#All of the 23 samples showed the weak B antigen by serological method. The alleles of the subgroups were identified by DNA sequencing, including 2 Bel subgroup, 4 B3 subgroup, 14 Bw subgroup, 2 CisAB subgroup and a novel allele. The novel allele showed a nucleotide substitution 662G>A in the exon 7, and the sequence was submitted to Blood Group Antigen Gene Mutation Database, and the novel allele was named Bel10.@*CONCLUSION@#Nucleotide substitution in exon results in blood subgroup, which showed that the antigens were weakened, and Bw phenotype was the most frequently subgroup.


Subject(s)
ABO Blood-Group System/genetics , Alleles , Exons , Genotype , Humans , Nucleotides , Phenotype
12.
Article in Chinese | WPRIM | ID: wpr-928449

ABSTRACT

OBJECTIVE@#To perform gene mutation analysis in a Chinese pedigree with dystrophic epidermolysis bullosa pruriginosa (DEB-Pr), and explore phetotype, genotype, and genotypes-phenotypes relationship of DEB-Pr.@*METHODS@#Potential variants of the COL7A1 gene were detected by skin targeted sequencing panel and verified by Sanger sequencing. The pathogenicity of the variation was analyzed.@*RESULTS@#Compound heterozygous variants, c.4128delT and c.8234G>A, were detected in the COL7A1 gene of the two patients. The c.4128delT(p.Pro1376fs) variant was derived from their mother and unreported previously. According to the American College of Medical Genetics and Genomics Standards and Guidelines, it was suggested to be a pathogenic mutation. The c.8234G>A(p.Arg2745Gln) variant was derived from their father, and possibly is a pathogenic variation.@*CONCLUSION@#In this study, the compound heterozygous variants of c.4128delT(p.Pro1376fs) and c.8234G>A(p.Arg2745Gln) of the COL7A1 gene probably underlies the disease in this patient and his sister. And our study expands the database on mutations of DEB-Pr.


Subject(s)
Collagen Type VII/genetics , Epidermolysis Bullosa Dystrophica/genetics , Female , Humans , Male , Mutation , Pedigree , Phenotype
13.
Article in Chinese | WPRIM | ID: wpr-928444

ABSTRACT

OBJECTIVE@#To analyze clinical phenotype and genetic variants in a Chinese pedigree of hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome.@*METHODS@#Whole exome sequencing was carried out for the proband from the pedigree. Suspected FH gene variants were validated by Sanger sequencing. Clinical manifestation and histopathological examination were used to analyze the pedigree comprehensively.@*RESULTS@#The pedigree met the clinical diagnostic criteria for HLRCC syndrome. The whole exome sequencing showed that the FH gene of the proband had a heterozygous missense variant of c.1490T>C (p.F497S), which was consistent with the Sanger sequencing. The mother, daughter and son of the proband all had the heterozygous missense variant of c.1490T>C (p.F497S). According to the American Society of Medical Genetics and Genomics Classification Standards and Guidelines for Genetic Variations, c.1490T>C (p.F497S) (PM2+PP1-M+PP3+PP4) was a possible pathogenic variant. Based on our literature search, this variant was a new variant that had not been reported.@*CONCLUSION@#The FH gene missense variant of c.1490T>C (p.F497S) may be the cause of the HLRCC syndrome pedigree, which provides a basis for the genetic diagnosis and genetic counseling of the HLRCC syndrome.


Subject(s)
Carcinoma, Renal Cell/genetics , Humans , Kidney Neoplasms/genetics , Leiomyomatosis/pathology , Mutation , Neoplastic Syndromes, Hereditary , Pedigree , Phenotype , Skin Neoplasms , Uterine Neoplasms
14.
Article in Chinese | WPRIM | ID: wpr-928443

ABSTRACT

OBJECTIVE@#To conduct clinical and genetic analysis of two male patients with atypical Rett syndrome.@*METHODS@#Collection of clinical data in the two patients and these parents; whole exome sequencing (WES) was used to detect the potential variants, which were verified by Sanger sequencing. X chromosome inactivation (XCI) detection is performed in the Patient 1's mother to detect the allelic expression difference of the MECP2 gene.@*RESULTS@#Patient 1, a 5-year and 10-month-old boy, had mental disorders and mild intellectual disability (ID) (IQ: 54), whose mother had ID. Patient 2 was a 9-month and 18-day-old male presented with recurrent infections, respiratory insufficiency, hypotonia and global developmental delay. WES indentified a hemizygous mutation, c.499C>T (p.R167W), in the MECP2 gene in patient 1, which was inherited from his mother. The inactivation of X chromosome is skewed, and the expression ratio of wild-type and mutant MECP2 is 100%:0. Patient 2 was found a de novo splicing mutation, c.62+2_62+3del in the MECP2 gene. They were both reported pathogenic variant related to Rett syndrome. c.499C>T (p.R167W) was defined as likely pathogenic (PS1+PM2+PP3) and c.62+2_62+3del was pathogenic (PVS1+PM2+PM6) based on American College of Medical Genetics and Genomics standards and guidelines.@*CONCLUSION@#Both the two patients were diagnosed with rare male Rett syndrome, which had atypical clinical manifestations and large difference. Above foundings have revealed novel phenotypes in Chinese male patients with Rett syndrome.


Subject(s)
Craniosynostoses , Female , Genetic Testing , Humans , Intellectual Disability/genetics , Male , Methyl-CpG-Binding Protein 2/genetics , Mutation , Phenotype , Rett Syndrome/genetics
15.
Article in Chinese | WPRIM | ID: wpr-928441

ABSTRACT

OBJECTIVE@#To summarize the clinical phenotype and genotypic characteristics of 3 patients with KBG syndrome and epileptic seizure.@*METHODS@#Clinical data of the patients were collected. Family-trio whole exon sequencing (WES) was carried out. Candidate variants were verified by Sanger sequencing.@*RESULTS@#Patients 1 and 2 were boys, and patient 3 was an adult woman. All patients had epileptic seizures and mental deficiency. Their facial features included triangular face, low hair line, hypertelorism, large forward leaning auricles, broad nasal bridge, upturned nostrils, long philtrum, arched upper lip, and macrodontia. The two boys also had bilateral Simian creases. WES revealed that the three patients all harbored heterozygous de novo frameshift variants in exon 9 of the ANKRD11 gene including c.2948delG (p.Ser983Metfs*335), c.5397_c.5398insC (p.Glu1800Argfs*150) and c.1180_c.1184delAATAA (p.Asn394Hisfs*42). So far 291 patients with ANKRD11 gene variants or 16q24.3 microdeletions were reported, with over 75% being de novo mutations.@*CONCLUSION@#Above findings have enriched the spectrum of ANKRD11 gene mutations underlying KBG syndrome. WES is helpful for the early diagnosis of KBG, and provided reference for genetic counseling of this disease.


Subject(s)
Abnormalities, Multiple/genetics , Bone Diseases, Developmental/genetics , Epilepsy/genetics , Facies , Humans , Intellectual Disability/genetics , Phenotype , Repressor Proteins/genetics , Seizures/genetics , Tooth Abnormalities/genetics
16.
Article in Chinese | WPRIM | ID: wpr-928433

ABSTRACT

OBJECTIVE@#To analyze the clinical phenotype and genetic variants of a child with X-linked mental retardation caused by IQSEC2 gene mutation, and provide reference for the diagnosis of the disease.@*METHODS@#The child was subjected to next generation sequencing (NGS), and the diagnosis was made by taking consideration of her clinical characteristics.@*RESULTS@#The child has presented with global developmental delay, particularly in fine motor skill and language development, in addition with intellectual disability. Genetic testing revealed that she has harbored a heterozygous c.1861dup variant of the IQSEC2 gene, which was not detected in either parent.@*CONCLUSION@#The de novo c.186ldup variant of the IQSEC2 gene probably underlay the X-linked mental retardation in this child. Above finding has, expanded the spectrum of IQSEC2 gene mutations and provide a basis for the diagnosis of similar cases.


Subject(s)
Female , Guanine Nucleotide Exchange Factors/genetics , Heterozygote , Humans , Intellectual Disability/genetics , Mental Retardation, X-Linked/genetics , Mutation , Phenotype
17.
Article in Chinese | WPRIM | ID: wpr-928430

ABSTRACT

OBJECTIVE@#To explore the clinical features and genetic etiology for a neonate with Smith-Magenis syndrome (SMS).@*METHODS@#Copy number variation sequencing (CNV-seq) was applied to the neonate and his parents, and the genotype-phenotype correlation was analyzed.@*RESULTS@#On the second day after birth, the neonate had presented with pathological jaundice and immunodeficiency. Cranial MRI revealed ventricular enlargement and enlargement of cisterna magna. At 3 months, the infant has presented with square face, prominent forehead, deep-set eyes, hypertelorism, palpebral fissure upward and button noses. Genetic testing showed that he had carried a 2.9 Mb deletion in 17p11.2 region, seq[GRCh37] del(17)(p11.2)(chr17:16 836 379-19 880 992). The same deletion was not found in either parent.@*CONCLUSION@#SMS is mostly diagnosed in child and adulthood, but rarely in neonates. For neonates with SMS, the neurological and behavioral abnormalities have not been shown, but pathological jaundice, CNS abnormalities and immune deficiency may be the characteristics, which require attention of neonatal physicians.


Subject(s)
Adult , Chromosome Deletion , Chromosomes, Human, Pair 17 , DNA Copy Number Variations , Genetic Testing , Humans , Infant, Newborn , Intellectual Disability/genetics , Male , Phenotype , Smith-Magenis Syndrome/genetics
18.
Article in Chinese | WPRIM | ID: wpr-928425

ABSTRACT

OBJECTIVE@#To analyze the clinical characteristics and genetic basis of two children patients with CHARGE syndrome.@*METHODS@#The clinical features of the two patients were analyzed, and potential variants were detected by Trio whole exome sequencing (trio-WES) of the probands and their parents.@*RESULTS@#Child 1 has manifested cerebellar vermis dysplasia, enlargement of cerebral ventricles, whereas child 2 manifested with infantile spasm and congenital hip dysplasia. Both children were found to harbor de novo heterozygous variants of the CHD7 gene, namely c.4015C>T (exon 17) and c.5050G>A (exon 22). Based on the guidelines of the American College of Medical Genetics and Genomics, the two variants were rated as pathogenic variants, and the related disease was CHARGE syndrome. Furthermore, child 2 was also found to harbor a novel heterozygous c.6161A>C (p.Gln2054Pro) missense variant of COL12A1 gene, which was rated as possibly pathogenic, and the associated disease was Bethlem myopathy type 2, which is partially matched with the patient' s clinical phenotype.@*CONCLUSION@#The special clinical phenotypes shown by the two children harboring novel CHD7 variants have further expanded the phenotypic spectrum of CHARGE syndrome.


Subject(s)
CHARGE Syndrome/genetics , DNA Helicases/genetics , DNA-Binding Proteins/genetics , Genetic Testing , Heterozygote , Humans , Mutation , Phenotype , Whole Exome Sequencing
19.
Article in Chinese | WPRIM | ID: wpr-928418

ABSTRACT

OBJECTIVE@#To analyze the clinical phenotypes and ATP7B gene variants among children patients with Wilson' s disease from Northwestern China.@*METHODS@#The clinical features and variants of the ATP7B gene among 75 children with hepatic Wilson' s disease were retrospectively analyzed.@*RESULTS@#Among the 75 cases, 4 were presymptomatic, 59 had isolated transaminase elevation, 12 had acute and/or chronic liver diseases. Nine children were found to harbor homozygous variants, 64 harbored compound heterozygous variants, and two only had heterozygous variants of the ATP7B gene. In total 49 variants were detected, with common variants including c.2333G>T (p.Arg778Leu), c.2621C>T (p.Ala874Val) and c.2975C>T (Pro992Leu), which yielded allelic frequencies of 28.7%, 12.7% and 9.3%, respectively. Six novel variants were detected, which included c.1908dupC (p.Asn637Glnfs*118), c.4179_4180insC (p.Pro1394Profs*15), c.1604A>G (p.Glu535Gly), c.2278C>T (p.Pro760Ser), c.3008C>A (p.Ala1003Glu) and c.3532A>C (p.Thr1178Pro). Except for c.1604A>G (p.Glu535Gly), the remainder five were all predicted to be likely pathogenic. No significant correlation was found between genotype and phenotype among the patients.@*CONCLUSION@#The common mutation types of the ATP7B gene among patients with hepatic Wilson disease in Northwestern China are c.2333G>T (p.Arg778Leu), c.2621C>T (p.Ala874Val) and c.2975C>T (p.Pro992Leu), there is no significant correlation between their genotypes and phenotypes.


Subject(s)
Copper-Transporting ATPases/genetics , Genotype , Hepatolenticular Degeneration/genetics , Humans , Mutation , Phenotype , Retrospective Studies
20.
Article in Chinese | WPRIM | ID: wpr-928416

ABSTRACT

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease which is associated with genetic and environmental factors, though the pathogenesis is still unclear and there is also a lack of effective treatment. With the rapid advance of genetic testing techniques, over 30 genes have been associated with the disease. Some ALS patients harboring genetic variants may present unique clinical characteristics and particular mode of inheritance, but the correlation between genotype and phenotype is still not very clear. Studies have shown that research on the pathogenic genes of ALS is important for the diagnosis and selection of potential drug targets. Here the pathogenic genes of ALS, in particular the newly discovered genes, and their underlying mechanisms are reviewed. The necessity of genetic testing for ALS patients is also stressed.


Subject(s)
Amyotrophic Lateral Sclerosis/genetics , Genetic Testing , Genotype , Humans , Neurodegenerative Diseases/genetics , Phenotype
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