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1.
Yi Chuan ; 46(4): 346-354, 2024 Apr 20.
Artigo em Inglês | MEDLINE | ID: mdl-38632096

RESUMO

Red-green colour blindness is a classic example for the teaching of X-linked recessive inheritance in genetics course. However, there are lots of types of color vision deficiencies besides red-green colour blindness. Different color vision deficiencies caused by different genes may have different modes of inheritance. In recent years, many research achievements on colour blindness have been made. These achievements could be used as teaching resources in genetics course. Here, we summarize the construction of genetics teaching resources related to colour blindness and their application in genetics teaching in several chapters such as introduction, cellular and molecular basis of genetics, sex-linked inheritance, chromosomal aberration, gene mutation and advances in genetics. Teacher could use the resources in class or after class with different teaching methods such as questioning teaching method and task method. It may expand students' academic horizons and inspire students' interest in genetics besides grasping basic genetic knowledge.


Assuntos
Defeitos da Visão Cromática , Genética , Humanos , Defeitos da Visão Cromática/genética , Mutação , Aberrações Cromossômicas , Ensino
3.
Cell ; 187(5): 1017-1018, 2024 Feb 29.
Artigo em Inglês | MEDLINE | ID: mdl-38428384
4.
Eur J Hum Genet ; 32(2): 135-137, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38332347
5.
Nature ; 626(7999): 487-488, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38297045
7.
HGG Adv ; 4(4): 100231, 2023 Oct 12.
Artigo em Inglês | MEDLINE | ID: mdl-37869565

RESUMO

The way we "talk" about genetics plays a vital role in whether public audiences feel at ease in having conversations about it. Our research explored whether there was any difference between "what we say" and "what people hear" when providing information about genetics to community groups who are known to be missing from genomics datasets. We conducted 16 focus groups with 100 members of the British public who had limited familiarity with genomics and self-identified as belonging to communities with Black African, Black Caribbean, and Pakistani ancestry as well as people of various ancestral heritage who came from disadvantaged socio-economic backgrounds. Participants were presented with spoken messages explaining genomics and their responses to these were analyzed. Results indicated that starting conversations that framed genomics through its potential benefits were met with cynicism and skepticism. Participants cited historical and present injustices as reasons for this as well as mistrust of private companies and the government. Instead, more productive conversations led with an acknowledgment that some people have questions-and valid concerns-about genomics, before introducing any of the details about the science. To diversify genomic datasets, we need to linguistically meet public audiences where they are at. Our research has demonstrated that everyday talk about genomics, used by researchers and clinicians alike, is received differently than it is likely intended. We may inadvertently be further disengaging the very audiences that diversity programs aim to reach.


Assuntos
População Africana , População Negra , Informação de Saúde ao Consumidor , Genômica , Idioma , População Branca , Humanos , População Negra/psicologia , Grupos Focais , População Branca/psicologia , Genética , População Africana/psicologia , Reino Unido , Confiança/psicologia
8.
J Genet ; 1022023.
Artigo em Inglês | MEDLINE | ID: mdl-37798873

RESUMO

Modern genetics research increasingly reveals that what is commonly termed Mendelian genetics occurs rarely in nature, especially with regard to the effects that genetic variation exerts on human characteristics. It has been argued that an inappropriate emphasis on Mendel's work could distort the public understanding of genetics and indeed in the UK Mendel has been completely dropped from the official school syllabus. There is a widespread misunderstanding that Mendel studied common phenotypes such as height and colour in individual pea plants. In fact, he studied a handful of specially selected phenotypes which he observed to be always dichotomous in 22 specially bred varieties of pea and studied crosses between individuals from these different varieties. This approach enabled him to study a small number of phenotypes which did in fact exhibit truly Mendelian transmission. Modern molecular genetic studies have now demonstrated that these phenotypes result from loss of function variants which result in markedly reduced activity of specific proteins and which hence have recessive effects. Understanding that Mendel studied the effects of loss of function mutations in crosses between artificially bred varieties, rather than naturally occurring variation in a population, could allow his work to continue to be taught as part of a modern genetics curriculum.


Assuntos
Cruzamento , Genética , Humanos , Fenótipo , Mutação
9.
Behav Brain Sci ; 46: e204, 2023 09 11.
Artigo em Inglês | MEDLINE | ID: mdl-37694896

RESUMO

The view advanced by Madole & Harden falls back on the dogma of a gene as a DNA sequence that codes for a fixed product with an invariant function regardless of temporal and spatial contexts. This outdated perspective entrenches the metaphor of genes as static units of information and glosses over developmental complexities.


Assuntos
DNA , Genética , Humanos
10.
Behav Brain Sci ; 46: e191, 2023 09 11.
Artigo em Inglês | MEDLINE | ID: mdl-37694911

RESUMO

Madole & Harden describe how genetics can be used in a causal framework. We agree with many of their opinions but argue that comparing within-family designs to experiments is unnecessary and that the proposed influence of genetics on behavior can be better described as inus conditions.


Assuntos
Genética , Idioma , Humanos
11.
Behav Brain Sci ; 46: e195, 2023 09 11.
Artigo em Inglês | MEDLINE | ID: mdl-37694921

RESUMO

Counterfactual causal interpretations of family genetic effects are appropriate, but neglect an important feature: Provision of unique information about expected outcomes following an independent decision, such as a decision to intervene. Counterfactual causality criteria are unlikely to resolve controversies about behavioral genetic findings; such controversies are likely to continue until counterfactual inferences are translated into interventional hypotheses and designs.


Assuntos
Família , Genética , Humanos , Causalidade
12.
Behav Brain Sci ; 46: e223, 2023 09 11.
Artigo em Inglês | MEDLINE | ID: mdl-37695007

RESUMO

Genetic studies in the social sciences could be augmented through the additional consideration of functional (transcriptome, methylome, metabolome) and/or multimodal genetic data when attempting to understand the genetics of social phenomena. Understanding the biological pathways linking genetics and the environment will allow scientists to better evaluate the functional importance of polygenic scores.


Assuntos
Genética , Ciências Sociais , Humanos
13.
Science ; 381(6662): 1052, 2023 09 08.
Artigo em Inglês | MEDLINE | ID: mdl-37676948

RESUMO

Pioneer of cell mutagenesis and DNA repair research.


Assuntos
Reparo do DNA , Genética , Mutagênese , Genética/história , Estados Unidos
14.
Hum Genet ; 142(8): 1231-1246, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37578529

RESUMO

Domestic dogs display a wide array of heritable behaviors that have intermediate genetic complexity thanks to a long history of human-influenced selection. Comparative genetics in dogs could address the scarcity of non-human neurogenetic systems relevant to human neuropsychiatric disorders, which are characterized by mental, emotional, and behavioral symptoms and involve vastly complex genetic and non-genetic risk factors. Our review describes the diverse behavioral "phenome" of domestic dogs, past and ongoing sources of behavioral selection, and the state of canine behavioral genetics. We highlight two naturally disordered behavioral domains that illustrate how dogs may prove useful as a comparative, forward neurogenetic system: canine age-related cognitive dysfunction, which can be examined more rapidly given the attenuated lifespan of dogs, and compulsive disorders, which may have genetic roots in purpose-bred behaviors. Growing community science initiatives aimed at the companion dog population will be well suited to investigating such complex behavioral phenotypes and offer a comparative resource that parallels human genomic initiatives in scale and dimensionality.


Assuntos
Comportamento Animal , Doenças do Sistema Nervoso Central , Cães , Genética , Animais , Humanos , Fenótipo , Doenças do Sistema Nervoso Central/genética , Modelos Animais
16.
Oral Dis ; 29(6): 2331-2333, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37485917
17.
Int J Mol Sci ; 24(14)2023 Jul 20.
Artigo em Inglês | MEDLINE | ID: mdl-37511477

RESUMO

In celebration of the bicentennial of the birth of Gregor Johann Mendel, the genius of genetics, this Special Issue presents seven papers [...].


Assuntos
Genética , História do Século XIX , Genética/história , Pessoas Famosas
18.
J Physician Assist Educ ; 34(3): 195-202, 2023 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-37467203

RESUMO

PURPOSE: This study aimed to assess the current landscape of genetics-genomics education in physician assistant (PA) student training. METHODS: A 25-question electronic survey was emailed to program directors of the 273 accredited PA programs. Questions represented PA program demographics and 4 domains: curricular characteristics and perceived adequacy; content; curricular approaches and instructional methods; and intent, barriers, and perceived needs for an optimal curriculum. RESULTS: A total of 115 PA program representatives (42%) returned the survey. More than two-thirds of responding programs do not require a prerequisite genetics course for matriculation. Most programs (48%) include 1 to 10 contact hours of genetics-genomics content and use various content delivery methods and approaches. Most programs (67%) use PA program faculty to teach genetics-genomics as part of one course or many courses throughout the curriculum (85%) using didactic lectures (97%). The most significant barrier to developing an optimal curriculum is an already overloaded curriculum (71%). Physician assistant educators welcome supportive resources, such as genetic case studies (96%). CONCLUSIONS: The study findings elucidate the current state of genetics-genomics education in PA programs. Every responding program reports that genetics-genomics is integrated into their curriculum; however, no standardization exists between programs. Although medical genetics-genomics has changed and advanced rapidly since a similar survey was conducted 14 years ago, the number of contact hours is unchanged, and genetics-genomics content is less dispersed throughout PA curricula. To create genetic-competent and genomic-competent PAs, education must evolve to stay current with ongoing advancements in genomic science.


Assuntos
Genética , Genômica , Assistentes Médicos , Genética/educação , Genômica/educação , Assistentes Médicos/educação , Humanos , Inquéritos e Questionários , Currículo
19.
JAMA ; 330(4): 297-298, 2023 07 25.
Artigo em Inglês | MEDLINE | ID: mdl-37382949

RESUMO

This Arts and Medicine feature summarizes events and scholarship honoring Abbot Gregor Mendel, founder of the science of modern genetics, on the occasion of the bicentennial of his birth.


Assuntos
Genética , Genética/história , História do Século XIX
20.
Perspect Psychol Sci ; 18(6): 1562-1574, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37384562

RESUMO

What are the major sources of worldwide variability in subjective well-being (SWB)? Twin and family studies of SWB have found substantial heritability and strong effects from unique environments but virtually no effects from shared environments. However, extant findings are not necessarily valid at the global level. Prior studies have examined within-countries variability but did not take into account mean differences across nations. In this article, we aim to estimate the effects of genetic factors, individual environmental exposures, and shared environments for the global population. We combine a set of knowns from national well-being studies (means and standard deviations) and behavioral-genetic studies (heritability) to model a scenario of twin studies across 157 countries. For each country, we simulate data for a set of twin pairs and pool the data into a global sample. We find a worldwide heritability of 31% to 32% for SWB. Individual environmental factors explain 46% to 52% of the variance (including measurement error), and shared environments account for 16% to 23% of the global variance in SWB. Worldwide, well-being is somewhat less heritable than within nations. In contrast to previous within-countries studies, we find a notable effect of shared environments. This effect is not limited to within families but operates at a national level.


Assuntos
Gêmeos Dizigóticos , Gêmeos Monozigóticos , Humanos , Gêmeos Dizigóticos/genética , Gêmeos Monozigóticos/genética , Exposição Ambiental , Interação Gene-Ambiente , Genética
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