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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
[Human adaptive phenotypes in physiology and medicine]
1State Research Centre of RF, Institute of Biomedical Problems, Moscow.
Abstract:
The study of pathological and physiological features associated with genetic syndromes has gained increasing momentum over the past two decades. In this paper, the definition of adaptive phenotypes is presented and the complexities and obstacles to progress in this field are summarized. This is a problem of general biology and is related to genetic specificity of every organism. The concept of individual norm of man's responses is to a certain extent associated with the doctrine of constitutions. From the practical point of view it is suggested to use in medicine and physiology an individual-constitutional approach and the term adaptophenotype (adaptive phenotype) which means a stable complex of genetic and phenotypical characteristics. It can be determined using clinical, physiological, genealogical, and dermatoglyphic methods, methods of genetic markers, phenotypical analysis, etc. A variety of developmental and physiological characteristics can form the "adaptophenotype" is used in general application, it is used to refer to a broad range of human functioning including pathological characteristics (somatic disorders), psychopathology (mental disorders), physiological and behavior problems. Genetic approaches help reveal not only individual hereditary parameters which manifest as signs but also latent pathological and physiological characteristics that may be used for professional selection. The delineation of adaptive phenotypes is a difficult enterprise, not that should not dissuade clinicians and researchers from undertaking it.
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