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[人类遗传学对感觉系统理解的贡献]

[Contribution of human genetics to the understanding of sensory systems].

作者信息

Petit C

机构信息

Unité de Génétique des Déficits Sensoriels, CNRS URA 1968, Institut Pasteur, 25 rue du Dr Roux-75724 Paris.

出版信息

Bull Acad Natl Med. 2000;184(7):1383-90; discussion 1390-2.

Abstract

As in the other animal species, human senses are adapted to their environment. The energy of photonic, mechanical, thermic or chemical, stimulus is perceived by sensory cells, either dispersed or packed in a sensory end organ. Fifteen years ago, our knowledge of the molecular bases of the function of the various modes of sensory perception was rudimentary with the noticeable exception of that of the phototransduction cascade. Since then, several causative genes for human sensory defects have been isolated. We will examine the outcome of this research in fundamental and medical terms, and bring up the vast yet unexplored fields of the sensory perception. Human genetics should contribute to enlighten the molecular aspects of the latter.

摘要

与其他动物物种一样,人类的感官适应其环境。光子、机械、热或化学刺激的能量由分散或聚集在感觉末梢器官中的感觉细胞感知。15年前,除了光转导级联反应外,我们对各种感觉模式功能的分子基础的了解还很初步。从那时起,已经分离出了几种导致人类感觉缺陷的基因。我们将从基础和医学角度审视这项研究的成果,并提出感觉感知这个广阔但尚未探索的领域。人类遗传学应有助于阐明后者的分子层面。

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