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1.
Recurso na Internet em Português | LIS - Localizador de Informação em Saúde, LIS-bvsms | ID: lis-LISBR1.1-46931

RESUMO

Tosse que não passa, suor mais salgado que o normal, pneumonia de repetição, diarreia e dificuldade para ganhar peso e estatura. Se esses sintomas aparecerem com frequência, pode indicar fibrose cística.


Assuntos
Fibrose Cística , Genética
3.
Yi Chuan ; 41(12): 1148-1155, 2019 Dec 20.
Artigo em Chinês | MEDLINE | ID: mdl-31857286

RESUMO

The cultivation of innovative abilities has become an important guide for higher education in China. Strengthening the integrated knowledge to design experiments is an effective way to improve undergraduate students' innovative abilities. Herein we designed a comprehensive experiment for molecular genetics by utilizing a rice Ds insertion mutant identified previously in our research project. In the comprehensive experiment, we adopt the method of scientific research as the main line of teaching and take the interesting phenotype of the rice mutant as the breakthrough point to reform and innovate genetics laboratory teaching. On the basis of this, we combined the progressive teaching method and guided the students to learn the TAIL-PCR skill and conduct an innovative experiment through expanding their knowledge. The comprehensive experiment will deepen students' understandings of the relationship between genotypes and phenotypes, help them master the effective way of thinking and technologies for scientific research to further improve their ability of the integrated application capability of theory and practices.


Assuntos
Genética , Mutagênese Insercional , China , Genética/educação , Humanos
4.
Recurso na Internet em Português | LIS - Localizador de Informação em Saúde, LIS-bvsms | ID: lis-LISBR1.1-46919

RESUMO

A Sociedade Brasileira de Genética Médica é uma entidade civil, de caráter científico e normativo, sem fins lucrativos, composta por em sua maioria por médicos, mas também por outros profissionais comprometidos com a prática da Genética Clínica e na atenção de pacientes com doenças genéticas raras ou não.


Assuntos
Genética , Genética Médica
5.
Hist Philos Life Sci ; 41(4): 50, 2019 Oct 28.
Artigo em Inglês | MEDLINE | ID: mdl-31659490

RESUMO

In this paper, rather than focusing on genes as an organising concept around which historical considerations of theory and practice in genetics are elucidated, we place genetic markers at the heart of our analysis. This reflects their central role in the subject of our account, livestock genetics concerning the domesticated pig, Sus scrofa. We define a genetic marker as a (usually material) element existing in different forms in the genome, that can be identified and mapped using a variety (and often combination) of quantitative, classical and molecular genetic techniques. The conjugation of pig genome researchers around the common object of the marker from the early-1990s allowed the distinctive theories and approaches of quantitative and molecular genetics concerning the size and distribution of gene effects to align (but never fully integrate) in projects to populate genome maps. Critical to this was the nature of markers as ontologically inert, internally heterogeneous and relational. Though genes as an organising and categorising principle remained important, the particular concatenation of limitations, opportunities, and intended research goals of the pig genetics community, meant that a progressively stronger focus on the identification and mapping of markers rather than genes per se became a hallmark of the community. We therefore detail a different way of doing genetics to more gene-centred accounts. By doing so, we reveal the presence of practices, concepts and communities that would otherwise be hidden.


Assuntos
Criação de Animais Domésticos/história , Marcadores Genéticos , Técnicas Genéticas/história , Genética/história , Sus scrofa/genética , Animais , Genômica/história , Genômica/métodos , História do Século XX
7.
Coluna/Columna ; 18(3): 236-239, July-Sept. 2019. tab
Artigo em Inglês | LILACS | ID: biblio-1019778

RESUMO

ABSTRACT The idiopathic scoliosis (IS) is the most common form of spinal deformity. The pathogenesis of IS is still poorly understood. Several studies show evidence that the genetic component is determinant to the development of IS. In this setting, a crescent focus has been placed on the identification of genes, associated genetic polymorphisms, and multiple susceptibility loci. This review highlights the genes and genetic polymorphisms currently studied, identified as influential in the genesis of IS, such as MMP-3, IL-6, type I collagen, and vitamin D and estrogen receptors. We concluded that IS remains a complex disease with a polygenic background and that genetic polymorphisms are intrinsically related to this condition. Level of evidence III; Narrative Review.


RESUMO A escoliose idiopática (EI) é a forma mais comum de deformidade da coluna vertebral. Porém, a patogênese ainda permanece mal compreendida. Diversos estudos apresentam evidências que o componente genético no desenvolvimento da EI é determinante. Nesse sentido, um foco crescente foi colocado na identificação de genes, polimorfismos genéticos associados e múltiplos loci de susceptibilidade. A presente revisão destaca os genes e polimorfismos genéticos atualmente estudados, indicados como tendo influência na gênese da EI, como os genes MMP-3, IL-6, do colágeno tipo 1, de receptores de vitamina D e de estrógenos. Conclui-se que a EI permanece uma doença complexa, com antecedentes poligênicos, e que os polimorfismos genéticos estão intrinsecamente relacionados à esta condição . Nível de evidência III; Revisão Narrativa.


RESUMEN La escoliosis idiopática (EI) es la forma más común de deformidad de la columna vertebral. La patogénesis de la EI sigue siendo poco conocida. Varios estudios presentan evidencias de que el componente genético en el desarrollo de la EI es determinante. En ese sentido, existe un creciente enfoque en la identificación de genes, polimorfismos genéticos asociados y loci de susceptibilidad múltiples. La presente revisión destaca los genes y polimorfismos genéticos actualmente estudiados, identificados como influyentes en la génesis de la EI, como los genes MMP-3, IL-6, colágeno tipo 1 y receptores de vitamina D y de estrógeno. Se concluye que la EI sigue siendo una enfermedad compleja con antecedentes poligénicos y que los polimorfismos genéticos están intrínsecamente relacionados con esta condición . Nivel de evidencia III; Revisión Narrativa.


Assuntos
Humanos , Polimorfismo Genético , Escoliose , Coluna Vertebral , Adolescente , Genética
8.
Genetics ; 212(4): 955-957, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31405996

RESUMO

The Elizabeth W. Jones Award for Excellence in Education recognizes an individual or group that has had significant, sustained impact on genetics education at any level, from K-12 through graduate school and beyond. Bruce Weir (University of Washington) is the 2019 recipient in recognition of his work training thousands of researchers in the rigorous use of statistical analysis methods for genetic and genomic data. His contributions fall into three categories: the acclaimed Summer Institute in Statistical Genetics, which has been held continuously for 23 years and has trained > 10,000 researchers worldwide; the popular graduate-level textbook Genetic Data Analysis; and the training of a growing number of forensic geneticists during the rise of DNA evidence in courts around the world.


Assuntos
Distinções e Prêmios , Genética/história , Estatística como Assunto/história , História do Século XXI , Estados Unidos
11.
Handb Clin Neurol ; 162: 105-132, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31324307

RESUMO

Disorders of the developing nervous system may be of genetic origin, comprising congenital malformations of spine and brain as well as metabolic or vascular disorders that affect normal brain development. Acquired causes include congenital infections, hypoxic-ischemic or traumatic brain injury, and a number of rare neoplasms. This chapter focuses on the clinical presentation and workup of neurogenetic disorders presenting in the fetal or neonatal period. After a summary of the most frequent clinical presentations, clues from history taking and clinical examination are illustrated with short case reports. This is followed by a discussion of the different tools available for the workup of neurogenetic disorders, including the various genetic techniques with their advantages and disadvantages. The implications of a molecular genetic diagnosis for the patient and family are addressed in the section on counseling. The chapter concludes with a proposed workflow that may help the clinician when confronted with a potential neurogenetic disorder in the fetal or neonatal period.


Assuntos
Doenças do Sistema Nervoso Central/genética , Feto/fisiologia , Genética , Recém-Nascido/fisiologia , Neurologia , Animais , Doenças do Sistema Nervoso Central/congênito , Doenças do Sistema Nervoso Central/diagnóstico , Doenças do Sistema Nervoso Central/fisiopatologia , Malformações Vasculares do Sistema Nervoso Central/genética , Feminino , Feto/fisiopatologia , Humanos , Biologia Molecular , Gravidez
12.
Yi Chuan ; 41(7): 653-661, 2019 Jul 20.
Artigo em Chinês | MEDLINE | ID: mdl-31307974

RESUMO

RNA interference is a gene silencing phenomenon mediated by short double-stranded RNAs, which has become a widely used research technology for reverse genetics. In order to make students understand the technology better, the students were required to select target genes, to design small interfering RNAs (siRNAs) and primers, and then to test the effect of gene silencing mediated by siRNAs. Taking the fifth group in 2018 as an example, Mus musculus acyl-CoA synthetase long-chain family member 1 (Acsl1) was selected as the target gene, two pairs of siRNAs targeting Acsl1 mRNA were designed and transfected into 3T3-L1 by electroporation, then the total RNAs were extracted and synthesized to cDNA, and the expression levels of mRNAs were finally tested by relative quantitative PCR. The results showed that both pairs of siRNAs had more than 60% silencing effects. In the past three years, about 83% of the students completed all the experiments successfully and screened out at least a pair of effective siRNA. This teaching practice for undergraduates enhances students' understanding of RNA interference principle and technology, and exercises students' lab experience and scientific research ability.


Assuntos
Genética/educação , Interferência de RNA , Estudantes , Ensino , Animais , Coenzima A Ligases , Expressão Gênica , Humanos , Camundongos , RNA Interferente Pequeno
13.
Methods Mol Biol ; 1910: 635-652, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31278680

RESUMO

Systems genetics combines high-throughput genomic data with genetic analysis. In this chapter, we review and discuss application of systems genetics in the context of evolutionary studies, in which high-throughput molecular technologies are being combined with quantitative trait locus (QTL) analysis in segregating populations.The recent explosion of high-throughput data-measuring thousands of RNAs, proteins, and metabolites, using deep sequencing, mass spectrometry, chromatin, methyl-DNA immunoprecipitation, etc.-allows the dissection of causes of genetic variation underlying quantitative phenotypes of all types. To deal with the sheer amount of data, powerful statistical tools are needed to analyze multidimensional relationships and to extract valuable information and new modes and mechanisms of changes both within and between species. In the context of evolutionary computational biology, a well-designed experiment and the right population can help dissect complex traits likely to be under selection using proven statistical methods for associating phenotypic variation with chromosomal locations.Recent evolutionary expression QTL (eQTL) studies focus on gene expression adaptations, mapping the gene expression landscape, and, tentatively, define networks of transcripts and proteins that are jointly modulated sets of eQTL networks. Here, we discuss the possibility of introducing an evolutionary "prior" in the form of gene families displaying evidence of positive selection, and using that prior in the context of an eQTL experiment for elucidating host-pathogen protein-protein interactions.Here we review one exemplar evolutionairy eQTL experiment and discuss experimental design, choice of platforms, analysis methods, scope, and interpretation of results. In brief we highlight how eQTL are defined; how they are used to assemble interacting and causally connected networks of RNAs, proteins, and metabolites; and how some QTLs can be efficiently converted to reasonably well-defined sequence variants.


Assuntos
Evolução Molecular , Genética , Genômica , Biologia de Sistemas , Animais , Evolução Biológica , Mapeamento Cromossômico , Genômica/métodos , Humanos , Locos de Características Quantitativas
14.
Yi Chuan ; 41(6): 548-563, 2019 Jun 20.
Artigo em Chinês | MEDLINE | ID: mdl-31257202

RESUMO

Gene structure and expression regulation mechanism are the research hotspots and focus of modern life sciences. The lac operon is a cluster of genes through which Escherichia coli catabolizes lactose. It was first proposed by F. Jacob and J. Monod, who were also awarded the Nobel Prize in Physiology or Medicine in 1965 for their contributions. Thereafter, the lac operon has become the classic teaching case of the gene regulation mechanism in microbiology, genetics and molecular biology, and been highly valued by teachers and students alike. Although the conclusion is easy to follow and memorize, its rich connotation and esoteric reasoning has rendered it difficult to understand, neither is it easy for teachers to fully exploit the advantages of this teaching case. Therefore it is necessary to have an in-depth understanding of the genetic structure and working principle of the lac operon, especially the scientific background and thinking process through which scientists revealed these mysteries. In this paper, the historical discovery and analysis process of the E. coli lac operon was reviewed by following their footprints, listening to their analysis of experimental results. Based on the DNA sequences, the reasons for several unusual phenomena of lac operon expression were also discussed to exemplify the teaching value of the classic cases in genetics and molecular biology.


Assuntos
Escherichia coli/genética , Genética/educação , Óperon Lac , Biologia Molecular/educação , Sequência de Bases , Lactose
15.
Crit Rev Oncol Hematol ; 140: 67-72, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31176273

RESUMO

The current availability of new Poly(ADP-ribose) Polymerase (PARP)-inhibitors for the treatment of ovarian cancer patients independently of the presence of a BRCA pathogenic variant, together with the validation of somatic test for the analysis of BRCA1/2 genes, involves the need to optimise the guidelines for BRCA testing. The AIOM-SIGU-SIBIOC-SIAPEC-IAP Italian Scientific Societies, in this position paper, recommend the implementation of BRCA testing with 2 main objectives: the first is the identification of ovarian cancer patients with higher probability of benefit from specific anticancer treatments (test for response to therapy); the second goal, through BRCA testing in the family members of ovarian cancer patients, is the identification of carriers of pathogenic variant, who have inheredited predisposition to cancer development (test for cancer risk). These individuals with increased risk of cancer, should be encouraged to participate in dedicated high-risk surveillance clinics and specific risk-reducing measures (primary and/or secondary prevention programs).


Assuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Testes Genéticos/normas , Mutação em Linhagem Germinativa , Neoplasias Ovarianas/genética , Sociedades Médicas , Bioquímica , Feminino , Genética , Humanos , Itália , Oncologia , Neoplasias Ovarianas/diagnóstico
16.
Genetics ; 212(2): 361-363, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31167897

RESUMO

The Genetics Society of America's Thomas Hunt Morgan Medal honors researchers for lifetime achievement in genetics. The recipient of the 2019 Morgan Medal is Daniel Hartl of Harvard University, who is recognized for his influential and diverse contributions to genetics research. The unifying theme of Hartl's broad impacts on transmission, population, evolutionary, and medical genetics has been the combination of theoretical insights with cutting-edge experimental techniques. Some of his contributions include revealing the genetics of segregation distortion, developing statistical frameworks for estimating the effects of selection, application of these frameworks to natural and experimental populations, discovery of the mariner transposon and its influence on genome evolution, insights into the evolution of gene expression differences, and modeling the evolution of malaria parasite populations. Hartl is also known as a supportive mentor who has trained many prominent geneticists that continue to shape the field.


Assuntos
Distinções e Prêmios , Genética/história , Biometria , Técnicas Citológicas/história , Evolução Molecular , História do Século XX , História do Século XXI , Mentores , Sociedades Científicas , Estados Unidos
17.
Genetics ; 212(2): 365-376, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31167898

RESUMO

Bruce Baker, a preeminent Drosophila geneticist who made fundamental contributions to our understanding of the molecular genetic basis of sex differences, passed away July 1, 2018 at the age of 72. Members of Bruce's laboratory remember him as an intensely dedicated, rigorous, creative, deep-thinking, and fearless scientist. His trainees also remember his strong commitment to teaching students at every level. Bruce's career studying sex differences had three major epochs, where the laboratory was focused on: (1) sex determination and dosage compensation, (2) the development of sex-specific structures, and (3) the molecular genetic basis for sex differences in behavior. Several members of the Baker laboratory have come together to honor Bruce by highlighting some of the laboratory's major scientific contributions in these areas.


Assuntos
Drosophila/genética , Genética/história , Processos de Determinação Sexual/genética , Animais , Compensação de Dosagem (Genética) , Evolução Molecular , História do Século XX , História do Século XXI , Mentores , Comportamento Sexual
18.
Stud Health Technol Inform ; 261: 82-87, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31156095

RESUMO

The lowering costs of DNA sequencing and the diffusion of numerous Direct to Consumer Genetic Testing (DTC-GT) services have made genetic testing easily available to the general public who can buy them without any medical prescription or consultation. Nevertheless, the knowledge required to understand the provided results and their implications is still scarce in the general public. Starting from these considerations, we developed two mini-games and one serious game to increase people genetic literacy through experiential learning. The three games were tested for usability on a sample of 30 participants, 10 for each game, who were asked to report any positive or negative issue related to the games and to fulfill the Game Experience Questionnaire in order to evaluate their playing experience. Results from the three games show that players experienced moderate levels of immersion and flow, low levels of negative sensations, and a prevalence of positive emotions. In general, these encouraging results suggest that the proposed games are suitable to transmit genetic notions to the general public.


Assuntos
Genética , Educação de Pacientes como Assunto , Interface Usuário-Computador , Jogos de Vídeo , Jogos Recreativos , Humanos , Inquéritos e Questionários
20.
J Genet ; 98(2)2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31204695

RESUMO

It is now common knowledge-but also a misbelief-that in 1905 William Bateson coined the term 'genetics' for the first time in his letter to Adam Sedgwick. This important term was already formulated 81 years ago in a paper written by a sheepbreeding noble called Imre (Emmerich) Festetics, who still remains somewhat mysterious even today. The articles written by Festetics summarized the results of a series of lasting and elegant breeding experiments he had conducted on his own property. Selecting the best rams, Festetics had painstakingly crossed and backcrossed his best sheep to reach better wool quality. These experiments later turned out to reveal a better understanding of inheritance outlining genetics as a new branch of natural sciences.


Assuntos
Galinhas/genética , Genética/história , Ervilhas/genética , Ovinos/genética , Animais , Cruzamento , Genética Populacional , História do Século XVII , História do Século XVIII , História do Século XIX , História do Século XX , Humanos
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