Roy M A, Mérette C, Maziade M
Département de psychiatrie de la Faculté de médecine de l'Université Laval et centre de recherche Université Laval Robert-Giffard.
Can J Psychiatry. 2001 Feb;46(1):52-60. doi: 10.1177/070674370104600108.
The recent progress in human genetics suggests major benefits in clinical practice, including psychiatry. This article introduces the research methodology used in psychiatric genetics and explains how it is applied, for a better understanding of the challenges facing psychiatric genetics and the strategies being used to overcome them. We will review the evidence of genetic factors in psychiatric disorder etiology as well as the specificity or non-specificity of their expression. We will discuss problems associated with the approximate nature of diagnostic methods, the incomplete penetrance and the genetic heterogeneity of psychiatric disorders, the presence of phenocopies and our uncertainty concerning the mode of inheritance of psychiatric disorders. Finally, we will provide an overview of the most promising results and set out priorities for future studies.
人类遗传学的最新进展表明其在临床实践中,包括精神病学领域,具有重大益处。本文介绍了精神病遗传学中使用的研究方法,并解释其应用方式,以便更好地理解精神病遗传学面临的挑战以及用于克服这些挑战的策略。我们将回顾精神疾病病因中遗传因素的证据以及它们表达的特异性或非特异性。我们将讨论与诊断方法的近似性质、精神疾病的不完全外显率和遗传异质性、拟表型的存在以及我们对精神疾病遗传方式的不确定性相关的问题。最后,我们将概述最有前景的研究结果,并列出未来研究的重点。