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遗传学与精神病学:过去的发现、当前的困境及未来的方向。

Genetics and psychiatry: past discoveries, current dilemmas, and future directions.

作者信息

Pardes H, Kaufmann C A, Pincus H A, West A

机构信息

New York State Psychiatric Institute, New York 10032.

出版信息

Am J Psychiatry. 1989 Apr;146(4):435-43. doi: 10.1176/ajp.146.4.435.

Abstract

Family, twin, and adoption studies have suggested an important role for hereditary factors in the etiology and pathogenesis of several psychiatric disorders. Advances in molecular and statistical genetics may very well reveal the identity of these factors, which may include single genes. Linked markers, critical to the discovery of abnormal genes in several medical conditions, have been reported for Huntington's disease, Alzheimer's disease, bipolar disorder, and schizophrenia. Psychiatric disorders pose particular problems (etiologic heterogeneity, incomplete penetrance, variable expressivity) for genetic research. New practical and ethical questions also arise. Nevertheless, knowledge may emerge that will suggest new approaches to diagnosis, prevention, and treatment.

摘要

家族、双胞胎和收养研究表明,遗传因素在几种精神疾病的病因和发病机制中起着重要作用。分子遗传学和统计遗传学的进展很可能揭示这些因素的身份,其中可能包括单个基因。在亨廷顿舞蹈症、阿尔茨海默病、双相情感障碍和精神分裂症中,已经报道了对于发现几种疾病中的异常基因至关重要的连锁标记。精神疾病给基因研究带来了特殊问题(病因异质性、不完全显性、可变表达)。新的实际问题和伦理问题也随之出现。然而,可能会产生新的知识,从而为诊断、预防和治疗提供新方法。

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