8 resultados para Human genetics

em Deakin Research Online - Australia


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Australian scientists in Sydney made medical history by creating a life-saving brother for a child with an incurable genetic disease. Features the case of a Tasmanian couple who, with their help, have this life-saving baby, at their third try. The pioneering IVF treatment, which is legal only in N.S.W., hit the news headlines, sparking an ethical storm. Examines the moral and ethical issues that genetic manipulation raises, including the potential uses and misuses of genetic technology. Raises also the spectre of an extreme form of eugenics, as seen in the World War II Nazi push to create a master race through human genetics. Some view eugenics as another form of PGD. Presents the diverse views of eminent ethicists and the Catholic Church, world wide.

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Two taxonomies for the accurate classification of human and predicted exons were produced. Based on these taxonomies important statistical properties of untranslated exons useful for improving automated genefinding efforts were calculated. Finally an important correlation between the energy and the information content in the human genome was identified.

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Reverse transcription of the HIV RNA genome is thought to occur in the host cell cytoplasm after viral adsorption. However, viral DNA has been isolated in cell-free virus particles. We have quantitated by polymerase chain reaction (PCR) amplification the amount of viral DNA in virions as compared to RNA. Virus produced by proviral DNA transfections of cos-7 cells or by chronically-infected H9 cells; neither of which express the cell surface CD4 receptor, contained at least 1000 times more viral RNA than DNA. In contrast, only 60 times more RNA than DNA was present in virus particles produced by transfection of Jurkat cells, which were CD4-positive and thus potentially susceptible to superinfection. Protease-defective virus, carrying only the precursor of reverse transcriptase (RT) p160gag-pol, contained virtually no detectable DNA. These results indicate that only mature RT (p66/p51) and not its precursor (p160gag-pol) is responsible for the presence of viral DNA in HIV.

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Social scientists and Indigenous people have voiced concerns that media messages about genetics and race may increase the public's belief in genetic determinism and even increase levels of racism. The degree of genetic determinism in media messages has been examined as a determining factor. This study is the first to consider the implications of this area of scholarship for the indigenous minority in Australia. A search of the last two decades of major Australian newspapers was undertaken for articles that discussed Indigenous Australians and genetics. The review found 212 articles, of which 58 concerned traits or conditions that were presented in a genetically deterministic or antideterministic fashion. These 58 articles were analysed by topic, slant, and time period. Overall, 23 articles were anti-deterministic, 18 were deterministic, 14 presented both sides and three were ambiguous. There was a spike in anti-deterministic articles in the years after the Human Genome Diversity Project, and a parallel increase in deterministic articles since the completion of the Human Genome Project in 2000. Potential implications of the nature of media coverage of genetics for Indigenous Australians is discussed. Further research is required to test directly the impact of these messages on Australians.

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A clear genetic influence in suicide has been established. In addition, both the serotonergic and noradrenergic systems appear to have a role in suicide, mood disorders and alcoholism. This paper reviews some of the genes that may possibly be involved in suicide and their link to major depression and alcoholism. The genes that are reviewed act on various enzymes within the serotonergic and catecholaminergic systems. With further study, these entities may form a spectrum along the same disease process associated with variable expressivity of the responsible genes.

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 Indigenous people stand to benefit from advances in genomic technology, but genetic research in Indigenous communities has been controversial. This article reviews the ethical issues that Indigenous people and others have raised with reference to genetic research projects and biobanks. The ethical issues that apply to Indigenous people should be seen as additional to ‘conventional’ ethical issues that apply to all people, rather than replacing them. The additional ethical concerns discussed include group harm; cultural beliefs relating to biospecimens and human origins; community engagement and collective consent; benefit; ownership; and whether biospecimens can and should be ‘repatriated.’

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The molecular processes underlying human milk production and the effects of mastitic infection are largely unknown because of limitations in obtaining tissue samples. Determination of gene expression in normal lactating women would be a significant step toward understanding why some women display poor lactation outcomes. Here, we demonstrate the utility of RNA obtained directly from human milk cells to detect mammary epithelial cell (MEC)-specific gene expression. Milk cell RNA was collected from five time points (24 h prepartum during the colostrum period, midlactation, two involutions, and during a bout of mastitis) in addition to an involution series comprising three time points. Gene expression profiles were determined by use of human Affymetrix arrays. Milk cells collected during milk production showed that the most highly expressed genes were involved in milk synthesis (e.g., CEL, OLAH, FOLR1, BTN1A1, and ARG2), while milk cells collected during involution showed a significant downregulation of milk synthesis genes and activation of involution associated genes (e.g., STAT3, NF-kB, IRF5, and IRF7). Milk cells collected during mastitic infection revealed regulation of a unique set of genes specific to this disease state, while maintaining regulation of milk synthesis genes. Use of conventional epithelial cell markers was used to determine the population of MECs within each sample. This paper is the first to describe the milk cell transcriptome across the human lactation cycle and during mastitic infection, providing valuable insight into gene expression of the human mammary gland.