941 resultados para Polygenic inheritance


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This paper describes a theory of inheritance theories. We present an original theory of inheritance in nonmonotonic hierarchies. The structures on which this theory is based delineate a framework that subsumes most inheritance theories in the literature, providing a new foundation for inheritance. * Our path-based theory is sound and complete w.r.t. a direct model-theoretic semantics. * Both the credulous and the skeptical conclusions of this theory are polynomial-time computable. * We prove that true skeptical inheritance is not contained in the language of path-based inheritance. Because our techniques are modular w.r.t. the definition of specificity, they generalize to provide a unified framework for a broad class of inheritance theories. By describing multiple inheritance theories in the same "language" of credulous extensions, we make principled comparisons rather than the ad-hoc examination of specific examples makes up most of the comparative inheritance work.

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Roberts, Michael. 'Recovering a lost inheritance: the marital economy and its absence from the Prehistory of Economics in Britain', in: 'The Marital Economy in Scandinavia and Britain 1400-1900', (Eds) Argen, Maria., Erickson, Amy Louise., Farnham: Ashgate, 2005, pp.239-256 RAE2008

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The co-occurrence of two rare recessive genetic conditions in apparently unrelated individuals or families is extremely rare. Two geographically distant and apparently unrelated families were identified in which individuals were simultaneously affected by two rare recessive mendelian syndromes, Papillon-Lefevre syndrome and type 1 oculocutaneous albinism. The families were tested for mutations in the causative genes, cathepsin C (CTSC) and tyrosinase (TYR), respectively, by direct sequencing. To assess the relationship of the two families, both families were tested for polymorphisms at eight microsatellite markers spanning both CTSC and TYR loci. Independent mutations (c.318-1G-->A and c.817G-->C/p.W272C) were identified in CTSC and TYR, respectively, that were shared by the affected individuals in both families. The two affected genes lie close together on chromosome bands 11q14.2-14.3, and studies with linked genetic markers suggested that the families shared a small chromosomal segment carrying both mutations that had been transmitted intact from a remote common ancestor. The co-occurrence of the two rare diseases in multiple families depends on their shared chromosomal location, but not on any shared pathogenic mechanism.

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Internationally, the gender relations of the family farming ‘way of life’ have beenshown to be stubbornly persistent in their adherence to patriarchal inheritancepractices. This article demonstrates how such ‘agri-cultural’ practices are situated bothwithin the subjective sphere of farming individuals’ and within global agri-economics,bringing new challenges to patrilineal farm survival. It is suggested here that the recenttendency for post-structuralist theorisation in rural studies has underestimated theexistence and impact of patrilineal patterns in family farming. Such patterns mean thatwomen are shown to largely occupy relational gender identities as the ‘helper’, whilstmen are strongly identified as the ‘farmer’. Drawing on repeated life-history interviewsconducted with farming men and women from Powys, Mid Wales, the aim of thisarticle is to generate debate as to the extent to which men can be brought into feministresearch practice in order to reveal patriarchy to a greater degree. The article begins bysituating the near-exclusion of men from feminist research practice within theoreticaldevelopments in feminist geography. This discussion also assists in deriving issues ofresearch methods, positionality and interpretive power which focus the integration ofempirical material in the methodological reflections provided in section three. In sectiontwo, the rationale for the epistemological stance taken in the research is provided. Thearticle provides an example of the successful integration of men into a feminist researchframe, suggests avenues for theoretical development and identifies future researchdirections which can be informed by ‘doing it with men’.

Keywords: epistemology; family farming; feminist res

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The existence of familial de Lange syndrome has been documented in sibs and in parent-child families, but the inheritance pattern continues to be the cause of much debate. We describe a classically affected neonate with de Lange syndrome, an affected mother and probably affected maternal grandmother. These cases show evidence for a dominantly inherited syndrome with a de Lange phenotype.

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Inheritance systems and practices have a key role in people’s ability to exit poverty, or, conversely, plunging them further into it. As land is the major asset in low-income developing countries, how property is passed on and divided between future generations is a significant factor. This paper looks at inheritance through minimally-structured interviews with several generations of Kenyan families, seeking to explain that the how and why of poverty can be understood in the wider family context. It analyses their fortunes and misfortunes over a given time period in the context of property ownership rights. It also looks at the impact of education and the inheritance of cultural capital. When both fertility and survival are high, traditional patterns of land inheritance can lead to progression sub-division of land with long-term adverse implications for sustainability. While inheritance in Kenya is male dominated, the paper nonetheless examines the position of women in the chain as vectors of male property rights. The application of male-oriented customary law where inheritance is concerned, rather than the use of statutory legislation, was found to be the reality for the overwhelming majority of the participants in the study.

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Ossification of the stylohyoid ligament is very common in the Caucasian population. More than 9000 descriptions of apparently isolated case reports on PubMed have been cited over the last 20 years, often associated with an incidental finding on imaging after neck trauma. No cases of familial ossification have been described. We document a family with several affected members, each with an ossified stylohyoid ligament, confirming that ossification may be hereditary in some families and is most likely due to an autosomal dominant gene.