Cell genetic engineering ­ transmission genetics of plants.

It has been described achievements of cell and genetic engineering that led to formation of new genetics chapter ­ transmission genetics. It has been analyzed results and showed new opportunities in the field of transgenomic somatic hybrids and cybrid obtaining, production of transgenic plants with agronomic pharmaceutical application, development of transplastomic plants, accu-mulation of recombinant proteins by using the transient expression of foreign genes in plants.

[Research progress in lampbrush chromosomes and some suggestions for their use in genetics teaching].

Lampbrush chromosomes (LBCs) are transient giant transcripts that exist at the diplotene stage of the first meiotic division in female gametocytes of almost all animals except mammals. LBCs are named for their lampbrush-like structure, however, they received the lowest research attention in studies of three classical cytogenetic chromosomes. They have been excellent models for studying the structure, organization, transcription, and transcriptional processing of chromosomes during meiosis. Here we briefly summarized these studies and LBCs forming mechanism and also discussed their possible functions, such as providing enough transcriptional products for embryonic development by oocytes LBCs or polyploidy demonstrated by previous reports. Finally, we discussed the possibility of introducing this typical case into our genetics teaching to inspire students' interest in genetics.

Os porquês da criança na psicologia genética de Piaget e na psicanálise e a dificuldade de aprendizagem / The whys of the children in Piaget's genetic psychology and psychoanalysis and learning difficulty

Aborda-se a dimensão do enigma na dificuldade de aprendizagem e, por conseguinte, a importância dos porquês intermináveis da criança em uma determinada fase. Para isso, trabalha com a interlocução entre o argumento de Piaget e a abordagem psicanalítica acerca dos referidos porquêsinfantis. Argumenta-se que embora a aprendizagem se sustente na suposição do saber do Outro, em muitos quadros, podemos verificar padecimentos nas aprendizagens devido à ausência da sustentação do enigma introduzido pelo saber inconsistente do Outro, cuja matriz são as investigações infantis com todos os seus porquês.

The whys of the children in Piaget's genetic psychology and psychoanalysis and learning difficulty. This article discusses the role played by the enigma in the learning difficulty and, consequently, the relevance of the child's interminable whys which take place at a specific stage. With this purpose, this article brings a conversation between Piaget's argument and the psychoanalytic approach about the referred child's whys. In this sense, this article argues that even though learning is sustained on the assumption of the Other's knowledge, in different contexts, we can verify learning failures due to the absence of sustainability of the enigma introduced by the Other's inconsistent knowledge, whose matrix are the child's investigations with all their whys.

[Literature of so-called "clinical research": structure and trends, 1991-2010]. / A klinikainak nevezett kutatások szakirodalmának szerkezete és irányai, 1991-2010.

The authors studied trends and patterns in the literature of research labeled as clinical (i.e., having the word "clinical" in their title) in the period between 1991 and 2010. The main findings are: 1. The growth of the literature under study was somewhat stronger than that of the overall medical literature. 2. The dominance of the USA is strong but is challenged by some of the most rapidly developing countries (particularly in the Far-East region: China, Korea) in total production, and by the developed European countries in highly cited publications. The eminence of Italy is remarkable. 3. In comparing the medical fields, the most striking tendencies are the increase of oncology and the attenuation of internal medicine. Surgery is steadily growing in size but decreasing in its citation influence. 4. Word frequency studies support the ever growing weight of oncology and also of genetics. 5. Beyond the thematic changes, word frequency studies also reveal a substantial change in attitude: in the period under study more and more effort was made on emphasizing the usefulness, efficiency and risks of the results in contrast with the more descriptive, investigative approach of the past. The role of therapy is growing, the role of diagnostics is decreasing. The knowledge of these trends and patterns may orient health and science policy makers to cope appropriately with the ever changing world of clinical research.

The business of genomic testing: a survey of early adopters.

PURPOSE: The practice of "genomic" (or "personalized") medicine requires the availability of appropriate diagnostic testing. Our study objective was to identify the reasons for health systems to bring next-generation sequencing into their clinical laboratories and to understand the process by which such decisions were made. Such information may be of value to other health systems seeking to provide next-generation sequencing testing to their patient populations. METHODS: A standardized open-ended interview was conducted with the laboratory medical directors and/or department of pathology chairs of 13 different academic institutions in 10 different states. RESULTS: Genomic testing for cancer dominated the institutional decision making, with three primary reasons: more effective delivery of cancer care, the perceived need for institutional leadership in the field of genomics, and the premise that genomics will eventually be cost-effective. Barriers to implementation included implementation cost; the time and effort needed to maintain this newer testing; challenges in interpreting genetic variants; establishing the bioinformatics infrastructure; and curating data from medical, ethical, and legal standpoints. Ultimate success depended on alignment with institutional strengths and priorities and working closely with institutional clinical programs. CONCLUSION: These early adopters uniformly viewed genomic analysis as an imperative for developing their expertise in the implementation and practice of genomic medicine.

Estudios de transformación genética en arveja voluble cultivar Santa Isabel / Genetic transformation study in climbing pea Santa Isabel cultivar

Se probaron diferentes alternativas de transformación genética en arveja cultivar "Santa Isabel" con el fin de estudiar los factores que afectan el proceso. Se emplearon los métodos de infiltración mediante vacío, infección directa de explantes, transformación de polen, y microinyección de ovarios. La prueba histoquímica de expresión gus fue escogida como método de análisis en la determinación de transformantes positivos. Con las metodologías empleadas se detectaron puntos azules en el tejido vegetal, lo cual indica la expresión transitoria del transgen en los explantes utilizados. Los resultados obtenidos sugieren que la transformación genética en arveja cultivada en Colombia puede ser utilizada para la introducción de genes de interés como apoyo a los procesos de mejoramiento genético.

Different genetic transformation alternatives were tested in pea, "Santa Isabel" cultivar, with the purpose of studying the factors that affect the process. The methods of infiltration with vacuum, direct infection of the explants, pollen transformation and ovary microinjection were used. The hystochemical test of the gus expression was chosen as analysis method in the determination of positive transformants. With the used methodologies, blue spots in the plant tissue were detected, which indicates transient expression of the transgene in utilized explants. The obtained results suggest that the genetic transformation in pea genotypes planted in Colombia can be utilized for the introduction of genes of interest as support to genetic improvement.

Genetics and gastrointestinal symptoms.

Gastrointestinal (GI) symptoms including nausea, vomiting, diarrhea, constipation, abdominal discomfort/pain, and heartburn are ubiquitous and as such are often the focus of nursing interventions. The etiologies of these symptoms include GI pathology (e.g., cancer, inflammation), dietary factors (e.g., lactose intolerance), infection, stress, autonomic nervous system dysregulation, medications, as well as a host of diseases outside the GI tract. This review focuses on a common condition (irritable bowel syndrome [IBS]) that is linked with both bowel pattern and abdominal discomfort/pain symptoms. Family and twin studies give evidence for a role of genetic factors in IBS. Whether genes are directly associated with IBS or influence disease risk indirectly by modulating the response to environmental factors remains unknown at this time. Given the multifactorial nature of IBS, it is unlikely that a single genetic factor is responsible for IBS. In addition, gene-gene (epistatic) interactions are also likely to play a role. Four genes coding for proteins involved in neurotransmission (i.e., the serotonin reuptake transporter [SERT], tryptophan hydroxylase [TPH], alpha2-adrenergic receptor [alpha2-ADR], catechol-o-methyl transferase [COMT]) and their potential relevance to GI symptoms and IBS will be reviewed. Further research using genome-wide association approaches with samples well characterized by ethnicity and standardized symptom subgrouping is needed.

Governança na nova genética e a participação pública: o caso das pesquisas com células-tronco / Governance in new genetics and public participation: the case of stem cell research

O artigo visa a apresentar uma revisão crítica da literatura internacional contemporânea sobre novas formas de governança e da participação pública, focando nas biociências da saúde de ponta, na área da saúde coletiva e pública. A nova genética confronta os indivíduos, as comunidades e os Estados nacionais com uma reformulação de supostos previamente aceitos, sobre a natureza da vida e das relações entre os seres vivos. Esses desenvolvimentos, nos países industrializados, têm rearticulado as relações entre cidadãos, cientistas e agentes de políticas públicas, e levado a adotar estratégias que envolvem simultaneamente o público em geral e excluem algumas das suas contribuições para o desenho de sistemas de regulação. O objetivo do artigo é apresentar elementos conceituais sobre esses temas que permitam, por um lado, refletir sobre a evolução das teorias e, por outro, difundir algumas das suas contribuições relevantes para a participação pública no contexto brasileiro. Exemplifica-se com o caso das pesquisas com células-tronco (PCTs) e das terapias celulares, segundo informações de uma pesquisa em andamento coordenada pela autora desse artigo. No final, o artigo analisa os tipos de consultas públicas elaboradas sobre a PCT nacional e a inclusão limitada das organizações da sociedade civil brasileira.

This paper presents a critical review of contemporary international literature on new forms of governance and public engagement, and focuses on cutting-edge health biosciences in the fields of social and public health. New genetics confronts individuals, communities and national States with a redefinition of conventional assumptions on the nature of life and of relationships between living beings. In industrialized countries, these developments have contributed to reorganize relationships between citizens, scientists and policymakers, and have led to the design of public policy strategies that, simultaneously, promote the engagement of the general public and exclude some of their contributions from regulatory frameworks. The main aim of this paper is to discuss selected theoretical concepts on these topics, as an incentive, on the one hand, for a reflection on the evolution of theories and, on the other, for the dissemination of contributions eventually relevant to public participation in the Brazilian context. Examples are provided on the case of stem cell research and therapy (SCR), based on data from an ongoing research project coordinated by the author. Towards the end, the text analyzes the public consultation processes on stem cell research developed in Brazil and their limited inclusion of voices from civil society organizations.

A nova genética para além da gestão de riscos e promoção da saúde: prolegômenos ao conceito de Biodesign / The new genetics beyond of risk management and promotion of health: introduction to the concept of Biodesign

A nova genética apontaria para uma nova era da metamorfose do humano, que seria marcada pelo protagonismo desse na seleção e aperfeiçoamento da sua natureza. Assim, o human enhancement tornaria-se uma realidade antropotécnica tangível. Esse artigo, inserido em uma pesquisa do campo da Ethics of Enhancement Human Beings, pretende excogitar um novo conceito para compreender nuances da chamada Genetic Age até agora aparentemente negligenciadas por outros dois conceitos já disponíveis, a saber, biopolítica e biossociabilidade. Para tanto, recorremos à revisão de parte da bibliografia sobre o tema e à análise e crítica desses conceitos, os quais focalizam a temática fundamentalmente através das noções de gestão de riscos e promoção da vida saudável. O objetivo foi apontar a parcial pertinência da grade de inteligibilidade fornecida por eles para compreender a nova genética. Destarte, apresentamos o conceito de biodesign como uma alternativa complementar. Com ele, esperamos oferecer, introdutoriamente, um conceito que apreenda, sobretudo, o que as possibilidades de artificialização da vida humana representam para além de uma nova forma de gestão de riscos/promoção da saúde.

The new genetics would point to a new era of metamorphosis of the human, which would be marked by the prominence of that in the selection and improvement of their nature. Thus, the Human Enhancement would become a tangible reality anthropo-technique. This paper, included a research of the field of Ethics Enhancement of Human Beings, intends excogitate a new concept to understand nuances called Genetic Age apparently overlooked by other already available, namely, Biopolitics and Biosociality. Therefore, we refer the review of the bibliography on Human Enhancement and the analysis and critique of these concepts, which focus on the issue mainly of risk management and promotion of healthy living. The objective was to identify the partial relevance of the grid of intelligibility provided by them to understand the new genetics. So, we present an introductory the concept of Biodesign as a complementary alternative, hoping that it permits the apprehension, especially, what the possibilities of artificiality of life to represent beyond a new form of risk management/health promotion.

Aplication of authenticity criteria in mitochondrial studies on archaic bone remains from a prehispanic Muisca population / Aplicación de criterios de autenticidad en estudios mitocondriales en restos óseos de un grupo poblacional muisca prehispánico

Introduction: Ancient DNA (aDNA)studies can support hypotheses regarding ancient populations; molecular studies can analyze the local population’s genetic composition, minimizing biases introduced by later migrations, demographic expansions, mutations, and bottleneck effects. These analyses must be performed with special care because of the low DNA concentrations and contamination risk; therefore, it is necessary to establish protocols to guarantee the reproducibility and veracity of results. Objective: The present study aims to establish a protocol to obtain ancient DNA from 16 pre-Columbian bone samples found in an excavation performed in the area ®Candelaria La Nueva¼ in Bogota, Colombia, dated in the period ®Muisca Tardio¼. Methods: Four founder mitochondrial DNA Amerindian haplotypes were analyzed by high resolution restriction enzyme analyses, obtaining fragments between 121 and 186 base pairs (bp). Different analyses were performed following a strict control of authenticity criteria regarding laboratory conditions, including: positive and negative controls, reproducibility of results, and verification of particular characteristics present in ancient DNA. Results: Results obtained from the bone samples showed the exclusive presence of haplogroup A in the population studied. This data support the statement of the archaeologists of a single biological population in space and time. The distribution of this haplogroup in a 100% frequency supports the hypothesis of Chibcha genetic affiliation. Conclusion: The present study is a contribution to the study of genetic diversity in archaic American populations, allowing the integration of geographic and historic data with genetic characterization techniques associated with linguistic, ethnographic, and glottochronology patterns. Following the protocol proposed in the present study allows fulfilling authenticity criteria for ancient samples with the available techniques.

Introducción: Los estudios de ADN arcaico (aADN) pueden verificar hipótesis sobre las poblaciones del pasado, permiten analizar la composición genética, pudiéndose así soslayar sesgos introducidos por migraciones, expansiones demográficas, mutaciones y cuellos de botella acontecidos con posterioridad. Los métodos de análisis son objeto de cuidadoso procedimiento debido a la dificultad de recuperación y a la posibilidad de contaminación, por lo tanto es necesario establecer protocolos que garanticen la reproducibilidad y veracidad de los resultados. Objetivo: El presente estudio tiene como fin establecer un protocolo para la obtención de ADN arcaico en 16 muestras óseas precolombinas encontradas en una excavación del sector de Candelaria La Nueva, Bogotá, Colombia, fechadas dentro del período Muisca Tardío. Métodos: Se estudiaron 4 haplogrupos fundadores amerindios presentes en el ADN mitocondrial arcaico, mediante enzimas de restricción con base en estudios de alta resolución obteniendo fragmentos de tamaños entre 121 y 186 pares de bases (pb). Los distintos análisis se realizaron observando un estricto control de los criterios de autenticidad en relación con las condiciones de laboratorio, incluyendo el uso de controles y blancos, la reproducibilidad de resultados y la verificación de las características particulares que presenta el ADN arcaico. Resultados: Los resultados obtenidos de las muestras óseas arcaicas establecieron la presencia única del haplogrupo ®A¼ en la población estudiada. Estos datos apoyan la afirmación de los arqueólogos en cuanto a que se trata de una misma población biológica tanto espacial como temporalmente. La distribución de este haplogrupo en una frecuencia del 100% soporta la filiación genética con los grupos chibcha.

Avaliação do desempenho na pós-desmama para uma população bovina multirracial Aberdeen Angus x Nelore utilizando-se diferentes modelos genéticos / Post weaning performance evaluation for a multibreed Aberdeen Angus x Nellore population using different genetic models

Com o objetivo de testar modelos genéticos alternativos ao aditivo-dominante em populações multirraciais, foram utilizadas informações do peso ao sobreano (PS) de 35.931 novilhos, filhos de 752 touros e 30.535 vacas das raças Aberdeen Angus (A) e Nelore (N) e de diversos grupos genéticos possíveis por meio do cruzamento entre elas. Foram testados cinco diferentes modelos (M) genéticos: o M1 continha o efeito genético fixo aditivo direto (AD), heterozigótico direto (HD), epistático direto (ED) e aditivo-conjunto direto (ACD); o M2, igual ao M1, menos o efeito ACD; o M3, igual ao M1, menos o efeito ED; o M4, igual ao M1, menos os efeitos ED e ACD; e o M5, igual ao M1, menos os efeitos HD, ED e ACD. Os modelos foram submetidos a três métodos de análise diferentes: método dos quadrados mínimos (MQM), regressão de cumeeira (RC) e máxima verossimilhança restrita (REML). O método de RC produziu estimativas de coeficientes com magnitudes e sinais explicados biologicamente. As estimativas dos efeitos, das (co)variâncias, dos parâmetros e dos valores genéticos diferiram entre os modelos, indicando a importância da correta escolha do modelo de análise, devendo-se ter conhecimento prévio do fenômeno estudado e sua interpretação biológica e sempre preceder à escolha de um modelo de análise genética multirracial o estudo da relação existente entre as variáveis independentes. Importantes efeitos adicionais ao efeito AD foram acrescentados pelas inclusões dos efeitos HD e ED aos modelos de análise. A notação matemática dos efeitos ACD, aplicada atualmente na literatura e testada neste estudo, não foi capaz de explicar a complementaridade entre raças como esperado, havendo problemas com casos de multicolinearidade entre os efeitos estudados.

In order to evaluate alternative genetic models to the additive dominant model, weights at yearling (PS) of 35,931 animals, sired by 752 bulls and 30,535 cows of Aberdeen Angus (A) and Nellore (N) breeds and the genetic groups from their crosses were used. Five different genetic models (M) were tested: M1, containing the direct additive fixed genetic effect (DA), heterozygote direct (HD), epystatic direct (ED), and direct joint additive direct (DJA); M2 was equal to M1, excluding DJA effect; M3 was equal to M1, excluding ED effect; M4 was equal M1, excluding ED and ACD effects, and M5 was equal to M1, excluding HD, ED, and DJA effects. The models were analyzed by different methods: Least Square Means Method (MQM), Ridge Regression Method (RC), and Restricted Maximum Likelihood Method (REML). Estimated coefficients by RC showed magnitude and sign which were biologically explained. The estimates of the covariances, parameters, and genetic values varied among the models, indicating the importance of the correct choice of the model for analysis, being necessary a previous knowledge of the studied phenomenon and its biological interpretation. Besides, it should always be considered the relationship between the independent variables before choosing a multibreed genetic analysis model. Important additional effects to the DA effect were considered by the inclusion of the HD and ED effects to the models for analysis. The DJA math notation, currently used in the literature and tested in the present study, was not able to explain the breed complementarity, due to the multi colinearity among the studied effects.

Correndo o risco: uma introdução aos riscos em saúde / At risk: an introduction to health risks

Mostra como o risco se tornou um tema popular nas últimas décadas e como esse processo afetou o campo da promoção da saúde, incluindo questões associadas ao estilo de vida, à genética e aos contextos socioculturais. Além de discutir aspectos técnicos, metodológicos e teóricos, chama a atenção para exageros associados à percepção de constantes ameaças e à aversão obsessiva a todos os riscos. Embora – é claro – não faça apologia à exposição desenfreada a reconhecidas ameaças à saúde e à vida, adota uma postura crítica em relação ao comportamento riscofóbico, gerador de ansiedade e insegurança.

Nem tudo que se diz é verdade e nem tudo que é verdade é dito: uma análise crítica da difusão do pensamento genético e evolucionário na contemporaneidade / Not everything that is said is true, nor everything that is true is said: a critical analysis of the diffusion of the genetic and evolutionary thought in the contemporaneous era

Nos últimos séculos a Ciência vem produzindo uma série de respostas para problemas que afligem a humanidade. São descobertas que procuraram mudar e continuam mudando a relação do ser humano com a Natureza, a divindade e com ele próprio. Mas é inegável que em momentos passados, a crença excessiva no poder da ciência e da razão conduziu a idéias e argumentos de cientificidade questionável, como o darwinismo social, a sociobiologia, o eugenismo e tantas outras. Outros problemas também podem provir de insinuações de estudiosos proeminentes de que os seres humanos são apenas um monte de neurônios ou apenas veículos para a propagação de genes, ou ainda, que somos somente máquinas. Parece que esse tipo de reducionismo presta um desserviço aos seres humanos, à sociedade e à ciência. Como tentaremos mostrar no decorrer desta tese, a propagação do conhecimento científico para o senso comum, nos parece impregnada desta concepção determinista de se pensar e fazer ciência. Encontramos nos mais diferentes campos de saber científico, da psicologia à sociologia, da economia à engenharia, uma série de argumentos comuns, baseados na Biologia genética e evolucionária e que, nas últimas duas décadas, vêm ganhando um espaço surpreendente de argumentação nos saberes acima. É como se houvesse uma determinação biológica para tudo e para todos. Foi da análise do material informativo e formativo circulante no senso comum, e da posterior constatação desta ‘impregnação’, que surgiu a necessidade e a inquietação em produzir um estudo crítico e mais aprofundado sobre estas questões, buscando ouvir alguns dos mais reconhecidos pesquisadores do campo para saber se há algum fundamento no que é noticiado e, muitas vezes, publicado oficialmente sobre o tema.