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Texto completo SciELO Chile
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Id: biblio-1039747
Autor: Mikolajczak, Krzysztof; Ogrodowicz, Piotr; Surma, Maria; Adamski, Tadeusz; Kuczyñska, Anetta.
Título: Introgression of LTP2 gene through marker assisted backcross in barley (Hordeum vulgare L. )
Fonte: Electron. j. biotechnol;19(6):9-11, Nov. 2016. ilus.
Idioma: en.
Resumo: Background: Marker-assisted introgression currently represents the most widely spread application of DNA markers as an aid to selection in plant breeding. New barley germplasm should be supplemented by genes that facilitate growth and development under stressful conditions. The homology search against known genes is a fundamental approach to identify genes among the generated sequences. This procedure can be utilized for SNP search in genes of predicted function of interest and associated gene ontology (GO). Results: Backcross breeding enhanced by marker selection may become a powerful method to transfer one or a few genes controlling a specific trait. In the study, the integrated approach of combining phenotypic selection with marker assisted backcross breeding for introgression of LTP2 gene, in the background of semi-dwarf spring barley cultivar, was employed. This study discusses the efficiency of molecular marker application in backcrossing targeted on the selected gene. Conclusions: BC6 lines developed in this study can serve as a unique and adequate plant material to dissect the role of LTP2 gene. Due to its role in lipid transfer, the LTP2 may be crucial in lipidome modification in response to abiotic stress.
Descritores: Seleção Genética
Hordeum/genética
Cruzamentos Genéticos
Melhoramento Vegetal/métodos
-Marcadores Genéticos
Polimorfismo de Nucleotídeo Único
Endogamia
Responsável: CL1.1 - Biblioteca Central


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Id: lil-553393
Autor: Nishimoto, Inês Nobuko.
Título: Biomarcadores de suscetibilidade em carcinomas de vias aerodigestivas superiores / Biomarkers of susceptibility in upper aerodigestive system cancer.
Fonte: São Paulo; s.n; 2003. 78 p. ilus, tab.
Idioma: pt.
Tese: Apresentada a Fundação Antônio Prudente para obtenção do grau de Doutor.
Resumo: O câncer das vias aerodigestivas superiores (VADS) está entre as formas mais comuns de neoplasias malignas, principalmente em países em desenvolvimento. Os hábitos de consumir tabaco e bebidas alcoólicas são os mais conhecidos e estabelecidos fatores de risco para o desenvolvimento dos carcinomas espinocelulares da boca, faringe e laringe. Somente uma pequena minoria dos consumidores de bebidas alcoólicas vem desenvolver uma neoplasia de VADS e outra pequena parte, não exposta aos carcinógenos do álcool e tabaco pode vir a desenvolver a doença, este fato sugere a existência de suscetibilidade genética individual. A carcinogênese pode ocorrer devido a anormalidades no metabolismo de carcinógenos, alterações nos genes de reparo no DNA ou nos genes envolvidos no ciclo celular... O polimorfismo CCND1 G870A no códon 242 do exon 4 aumenta o splicing alternativo tendo um importante papel na formação das neoplasias... O sistema Wave™ System foi usado para analisar o polimorfismo de cada genótipo. Dez % da amostras com perfil homozigoto e heterozigoto foram examinadas por sequenciamento direto... O genótipo AA do polimorfismo do gene do ADH3 mostrou ser um possível fator de risco especialmente para os indivíduos que consomem baixas quantidades de álcool ou tabaco. Os resultados sugerem que a presença do alelo A do polimorfismo da CCND1 confere riscos elevados especialmente para indivíduos sem história de consumo de bebidas alcoólicas...(AU)

Cancers of the upper aerodigestive tract (UADT) are among the most common malignant neoplasms, particularly in developing countries. Although several investigations have shown that tobacco and alcohol are risk factors in the development o f squamous cell carcinoma o f the oral cavity, pharynx, or larynx, such cancers develop in only a small proportion of individuais who use tobacco and or alcohol, and some patients who have these cancers have had no apparent exposure to tobacco and alcohol. This suggests that host susceptibility may play an important role in SCC of the head and neck. The malignant process involves several steps, and recent studies have identified some genes associated with genetic susceptibility, metabolism o f carcinogens, DN A repair, lost o f cell cycle control and head and neck tumorigenesis. Polymorphisms in genes involved in these pathways, like cyclin D 1 (CCNDJ) or alcohol dehydrogenases (ADH3) are candidate genes to be investigated for genetic susceptibility. The risks for development o f upper aerodigestive tract (UADT) cancers may be attributable for alcohol consumption and alcohol dehydrogenase enzymes (ADHs), which convert ethanol to acetaldehyde. Otherwise, the involvement o f cyclin D 1 ( CCND 1), located within chromosome 11 q 13, plays a criticai role in phase G1-S in the cell cycle control. The CCNDJ 870A/G polymorphism at codon 242 in exon 4 increases the alternate splicing, playing an important role in the formation of malignancies. To investigate the relationship between CCNDland ADH3 polymorphisms on susceptibility for UADT cancers, 147 cases (116 male and 31 female) and 135 non-cancer cases (91 male and 44 female) were selected. The tumor sites cases were: oral cavity, 66 (44.9%); oropharynx, 43 (29.2%); hypopharynx, 7 (4.8%) and larynx, 31 (21.1%). The Wave™ System was used to polymorphisms analysis for each genotype. Ten percent of samples with heterozygous and homozygous profiles were examined by direct sequenc1ng to confirm the presence of the polymorphism. The stratified analysis of this study showed a significant higher odds ratio for CCNDJ polymorphism A allele OR=7.5 in non-drinkers and non-significant OR = 5.4 for smokers, adjusted for sex, age, tobacco use and first-degree family history of cancer. For ADH3 polymorphism, the stratified and adjusted analysis showed significant higher odds ratio to AA genotypes OR=3.8 compared to GG+GA combined genotype for less than 100 kg ethanol lifetime consumers and OR=4.3 for less than 25 packyears tobacco smokers. These results suggest that CCNDJ combined A allele may be a risk factor especially in individuais without a history of drinking and that ADH3 genotype AA may be a risk factor for subjects that are consumers of small quantities of ethanol or of tobacco smoking (AU)
Descritores: Consumo de Bebidas Alcoólicas
Fatores de Risco
Marcadores Genéticos
Polimorfismo Genético
Polimorfismo Genético/genética
Tabaco
Limites: Humanos
Masculino
Feminino
Adulto
Responsável: BR30.1 - Biblioteca
BR30.1


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Texto completo SciELO Cuba
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Id: biblio-1093919
Autor: Sancesario Pérez, Luis Alberto.
Título: Implicaciones éticas de la identificación del potencial atlético infantil mediante pruebas genéticas / Ethical implications of the identification of children´s athletic potential through genetic testing
Fonte: Rev. habanera cienc. méd;18(6):957-968, nov.-dic. 2019.
Idioma: es.
Resumo: Introducción: La irrupción de la investigación genética en la esfera del deporte ha permitido la localización en el genoma de un considerable número de genes implicados en el rendimiento deportivo y, con ello, el desarrollo de tecnologías genéticas orientadas a la identificación del potencial atlético en niños, cuya aplicación, dada su relativa juventud, debe ser sometida al escrutinio de la comunidad científica desde el prisma de la ética. Objetivo: Evaluar, desde una perspectiva ética, el uso de tecnologías genéticas en la identificación del potencial atlético en niños. Material y métodos: Para la elaboración de la presente revisión, además de la consulta de publicaciones no seriadas, se efectuó una pesquisa en la base de datos Scopus. Resultados: En la actualidad se conocen más de 200 marcadores genéticos relacionados con la predisposición para la aptitud física y al menos 120 vinculados directamente con el rendimiento atlético de élite, información que ha sido utilizada por numerosas compañías para desarrollar los llamados Tests Directos al Consumidor, que pretenden identificar el potencial atlético en niños a partir de su genotipo, sin necesidad de consultar a un especialista. Conclusiones: El uso de tecnologías genéticas en la determinación del potencial atlético en niños no solo viola el espíritu del deporte, sino que también tiene el potencial de causar efectos nocivos en el individuo a nivel psicológico y social; razones por las que es éticamente inadmisible su uso en futuros atletas(AU)

Introduction: The emergence of genetic research in the field of sports has allowed the location of the genome of a considerable number of genes involved in sports performance and thus, the development of genetic technologies aimed at the identification of the athletic potential in children whose application, given its relative youth, should be subject to the review of the scientific community through the prism of ethics. Objective: To evaluate, from an ethical perspective, the use of genetic technologies in the identification of the athletic potential in children. Materials and methods: A search in Scopus database and the consultation of non-serial publications were carried out for the development of this review. Results: Currently, there are more than 200 genetic markers related to the predisposition for physical fitness and, at least, 120 of them are directly linked to elite athletic performance. This information has been used by many companies to develop the so-called Direct-to-Consumer Tests, which aim to identify the athletic potential in children from their genotype, without any need to consult a specialist. Conclusions: The use of genetic technologies in the determination of athletic potential in children not only violates the spirit of sport, but also has the potential to cause harmful effects on the individual at psychological and social levels, reasons why their use is ethically inadmissible in future athletes(AU)
Descritores: Marcadores Genéticos
Testes Genéticos
Aptidão Física
Pesquisa em Genética
Desempenho Atlético
-Esportes
Ética
Limites: Humanos
Masculino
Feminino
Criança
Adolescente
Responsável: CU1.1 - Biblioteca Médica Nacional


  4 / 697 LILACS  
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AVILA, Priscilla Elisangela
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Id: lil-333186
Autor: Santos, Veruska Marques dos; Macoris, Maria de Lourdes da Graça; Andrighetti, Maria Teresa Macoris; Avila, Priscilla Elisangela; Kirchgatter, Karin.
Título: Analysis of genetic relatedness between populations of Aedes aegypti from different geographic regions of São Paulo state, Brazil
Fonte: Rev. Inst. Med. Trop. Säo Paulo;45(2):99-101, Mar.-Apr. 2003. mapas.
Idioma: en.
Resumo: RAPD markers have been used for the analysis of genetic differentiation of Aedes aegypti, because they allow the study of genetic relationships among populations. The aim of this study was to identify populations in different geographic regions of the São Paulo State in order to understand the infestation pattern of A. aegypti. The dendrogram constructed with the combined data set of the RAPD patterns showed that the mosquitoes were segregated into two major clusters. Mosquitoes from the Western region of the São Paulo State constituted one cluster and the other was composed of mosquitoes from a laboratory strain and from a coastal city, where the largest Latin American port is located. These data are in agreement with the report on the infestation in the São Paulo State. The genetic proximity was greater between mosquitoes whose geographic origin was closer. However, mosquitoes from the coastal city were genetically closer to laboratory-reared mosquitoes than to field-collected mosquitoes from the São Paulo State. The origin of the infestation in this place remains unclear, but certainly it is related to mosquitoes of origins different from those that infested the West and North region of the State in the 80's
Descritores: Variação Genética
Aedes
Insetos Vetores
-Brasil
Marcadores Genéticos
Técnica de Amplificação ao Acaso de DNA Polimórfico
Limites: Animais
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME


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Tuan, Roseli
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Id: lil-282858
Autor: Tuan, Roseli; Bortolato, Paula Cristina.
Título: Genetic markers from Biomphalaria tenagophila (Gastropoda: Pulmonata: Planorbidae) obtained by the double stringency polymerase chain reaction technique
Fonte: Mem. Inst. Oswaldo Cruz;96(3):435-436, Apr. 2001. ilus.
Idioma: en.
Resumo: Biomphalaria tenagophila, one of the intermediate hosts of the trematoda Schistosoma mansoni, is a simultaneous hermafrodite snail species. In order to analyse the genetic structure of these populations, we performed a double-stringency PCR technique to obtain genetic markers with microsatellites and arbitrary primers in a single reaction
Descritores: Biomphalaria/genética
DNA/análise
Marcadores Genéticos
Reação em Cadeia da Polimerase/métodos
-Polimorfismo Genético
Peso Molecular
Limites: Animais
Responsável: BR1.1 - BIREME


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Id: biblio-1049513
Autor: Rauschemberger, María Belén.
Título: DNI óseo: cuando los huesos hablan / Bone DNI: when the bones speak
Fonte: Actual. osteol;14(3):165-167, sept. - dic. 2018.
Idioma: es.
Descritores: DNA/genética
Osteologia
-Arqueologia
Esqueleto
Osso e Ossos/fisiologia
DNA/análise
Diagnóstico por Imagem
Marcadores Genéticos/genética
Limites: Humanos
Masculino
Feminino
Tipo de Publ: Editorial
Responsável: AR2.1 - Biblioteca Central


  7 / 697 LILACS  
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Id: biblio-1087637
Autor: Ma, Junjie; Zhao, Yuhan; Chen, Hua; Fu, Chun; Zhu, Lin; Zhou, Ximeng; Xia, Han; Hou, Lei; Li, Guanghui; Zhuang, Weijian; Wang, Xingjun; Zhao, Chuanzhi.
Título: Genome-wide development of polymorphic microsatellite markers and their application in peanut breeding program
Fonte: Electron. j. biotechnol;44:25-32, Mar. 2020. graf, tab, ilus.
Idioma: en.
Projeto: Natural Science Foundation of China; . Shandong Province Natural Science Foundation; . Shandong Province Germplasm Innovation and Utilization Project; . Shandong Key Research Projects; . Taishan Scholar Project Funding, Agricultural Scientific and Technological Innovation Project of SAAS.
Resumo: BACKGROUND: Cultivated peanut (Arachis hypogaea. L) represents one of the most important oil crops in the world. Although much effort has been expended to characterize microsatellites or Simple Sequence Repeats (SSRs) in peanut, the quantity and quality of the markers in breeding applications remain limited. Here, genome-wide SSR characterization and marker development were performed using the recently assembled genome of the cultivar Tifrunner. RESULTS: In total, 512,900 microsatellites were identified from 2556.9-Mb genomic sequences. Based on the flanking sequences of the identified microsatellites, 7757 primer pairs (markers) were designed, and further evaluated in the assembled genomic sequences of the tetraploid Arachis cultivars, Tifrunner and Shitouqi, and the diploid ancestral species, A. duranensis and A. ipaensis. In silico PCR analysis showed that the SSR markers had high amplification efficiency and polymorphism in four Arachis genotypes. Notably, nearly 60% of these markers were single-locus SSRs in tetraploid Arachis species, indicating they are more specific in distinguishing the alleles of the A and B sub-genomes of peanut. In addition, two markers closely related with purple testa color and 27 markers near to FAD2 genes were identified, which could be used for breeding varieties with purple testa and high-oleic acid content, respectively. Moreover, the potential application of these SSR markers in tracking introgressions from Arachis wild relatives was discussed. CONCLUSIONS: This study reported the development of genomic SSRs from assembled genomic sequences of the tetraploid Arachis Tifrunner, which will be useful for diversity analysis, genetic mapping and functional genomics studies in peanut
Descritores: Arachis/genética
Cruzamento/métodos
Repetições de Microssatélites
-Polimorfismo Genético
Marcadores Genéticos
Reação em Cadeia da Polimerase
Genoma
Produtos Agrícolas
Responsável: CL1.1 - Biblioteca Central


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Texto completo SciELO Brasil
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Id: biblio-899400
Autor: Köse Çinar, Rugül.
Título: Telomere length and hTERT in mania and subsequent remission
Fonte: Rev. bras. psiquiatr;40(1):19-25, Jan.-Mar. 2018. tab, graf.
Idioma: en.
Projeto: TÜBAP.
Resumo: Objective: The findings of telomere length (TL) studies in bipolar disorder (BD) are controversial. The aim of the present study was to detect TL, human telomerase reverse transcriptase (hTERT), and brain derived neurotrophic factor (BDNF) in severe mania and subsequent remission. Methods: Twenty-one medication-free male patients and 20 age and gender matched controls were recruited. The patients were followed in the inpatient clinic, and comparisons were made between the same patients in their remission state and controls. Patients received lithium plus antipsychotics during the follow-up period. Quantitative real-time polymerase chain reaction was performed to verify leukocyte TL and whole blood hTERT gene expression levels. Serum BDNF levels were verified by enzyme-linked immunosorbent assay (ELISA). Results: Compared to controls, manic patients presented shorter telomeres (p < 0.001) whose length increased with treatment (p = 0.001). Patients in the late stages showed shorter TL than those in the early stages and controls (p < 0.001). hTERT gene expression levels were up-regulated in mania and remission compared to controls (p = 0.03 and p = 0.01, respectively). BDNF changes did not reach statistically significant levels. Conclusions: TL and hTERT gene expression might reflect a novel aspect of BD pathophysiology and TL might represent a novel biomarker for BD staging.
Descritores: Transtorno Bipolar/diagnóstico
Telômero/genética
Telomerase/genética
-Transtorno Bipolar/genética
Marcadores Genéticos
Estudos de Casos e Controles
Reação em Cadeia da Polimerase em Tempo Real
Encurtamento do Telômero/genética
Limites: Humanos
Masculino
Adulto
Responsável: BR1.1 - BIREME


  9 / 697 LILACS  
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Id: biblio-1038264
Autor: Succi, Isabella Brasil; Pôrto, Luís Cristóvão; Domingues, Patricia Mariana Gonçalves da Rocha Porto; Fonseca, João Carlos Macedo.
Título: Genetic ancestry of patients with porphyria cutanea tarda in a country with mixed races: a cross-sectional study (Rio de Janeiro - Brazil)
Fonte: An. bras. dermatol;93(1):148-150, Jan.-Feb. 2018. tab, graf.
Idioma: en.
Resumo: Abstract: Porphyria cutanea tarda has a complex etiology with genetic factors not completely elucidated. The miscegenation of the Brazilian population has important implications in the predisposition to diseases. There are no studies concerning the genetic ancestry of patients with porphyria cutanea tarda from a mixed population. Thirty patients living in Rio de Janeiro with sporadic porphyria cutanea tarda were studied for the genetic ancestry through informative markers - INDELS. There was a significant predominance of European ancestry across the sample of patients with porphyria cutanea tarda (70.2%), and a small contribution of African and Amerindian ancestry, 20.1% and 10.9%, respectively.
Descritores: Porfiria Cutânea Tardia/genética
Grupo com Ancestrais do Continente Europeu/genética
-Brasil/etnologia
Marcadores Genéticos/genética
Estudos Transversais
Genótipo
Limites: Humanos
Responsável: BR1.1 - BIREME


  10 / 697 LILACS  
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Borges, Maria de Fátima
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Id: biblio-1041362
Autor: Borges, Maria de Fátima; Domené, Horacio Mario; Scaglia, Paula Alejandra; Lara, Beatriz Hallal Jorge; Palhares, Heloísa Marcelina da Cunha; Santos, Andréia Vasconcelos Aguiar; Gonçalves, Amanda Lacerda Ferreira; Oliveira, Marília Matos; Marqui, Alessandra Bernadete Trovó de.
Título: A recurrent mutation in tshb gene underlying central congenital hypothyroidism undetectable in neonatal screening / Uma mutação recorrente no gene tshb resultando em hipotireoidismo congênito central não detectável na triagem neonatal
Fonte: Rev. Paul. Pediatr. (Ed. Port., Online);37(4):520-524, Oct.-Dec. 2019. tab, graf.
Idioma: en.
Resumo: ABSTRACT Objective: To describe the case of a patient with central congenital hypothyroidism (CCH) due to a recurrent mutation in the TSHB gene, as well as to conduct a genetic study of his family. Case description: It is presented a case report of a 5-month-old boy with a delayed diagnosis of isolated CCH in whom the molecular analysis was performed 12 years later and detected a recurrent mutation (c.373delT) in TSHB gene. The parents and sister were carriers of the mutant allele. Comments: The c.373delT mutation has previously been reported in patients from Brazil, Germany, Belgium, United States, Switzerland, Argentina, France, Portugal, United Kingdom and Ireland. In summary, our case and other ones reported in the literature support the theory that this mutation may be a common cause of isolated TSH deficiency. Isolated TSH deficiency is not detected by routine TSH-based neonatal screening, representing a clinical challenge. Therefore, when possible, molecular genetic study is indicated. Identification of affected and carriers allows the diagnosis, treatment and adequate genetic counseling.

RESUMO Objetivo: Descrever o caso de um paciente com hipotireoidismo congênito central (HCC) por conta de uma mutação recorrente no gene TSHB, bem como realizar um estudo genético de sua família. Descrição do caso: Relato de caso de um menino de 5 meses de idade com diagnóstico tardio de HCC isolado, em quem a análise molecular foi realizada 12 anos depois e detectou uma mutação recorrente (c.373delT) no gene TSHB. Os pais e a irmã eram portadores do alelo mutante. Comentários: A mutação c.373delT já foi relatada em pacientes do Brasil, da Alemanha, da Bélgica, dos Estados Uinidos, da Suíça, da Argentina, da França, de Portugal, do Reino Unido e da Irlanda. Em resumo, nosso caso e outros relatados na literatura reforçam a teoria de que essa mutação pode ser uma causa comum de deficiência isolada de TSH. A deficiência isolada de TSH não é detectada na triagem neonatal com base na dosagem de TSH, representando um desafio clínico. Portanto, quando possível, o estudo genético molecular é indicado. A identificação dos afetados e dos portadores permite o diagnóstico, o tratamento e o aconselhamento genético adequado.
Descritores: Triagem Neonatal
Hipotireoidismo Congênito/diagnóstico
Tireotropina Subunidade beta/genética
Diagnóstico Tardio
Mutação
-Marcadores Genéticos
Hipotireoidismo Congênito/genética
Limites: Humanos
Masculino
Feminino
Recém-Nascido
Lactente
Criança
Adulto
Tipo de Publ: Relatos de Casos
Responsável: BR1.1 - BIREME



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