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儿童发育、分子遗传学,以及一旦发现基因后该如何处理。

Child development, molecular genetics, and what to do with genes once they are found.

作者信息

Plomin R, Rutter M

机构信息

Social, Genetic and Developmental Psychiatry Research Centre, Institute of Psychiatry, London, United Kingdom.

出版信息

Child Dev. 1998 Aug;69(4):1223-42.

PMID:9768495
Abstract

Genes associated with behavioral dimensions and disorders are beginning to be identified. Although it is difficult and expensive to find genes associated with behavior, it is relatively easy and inexpensive to use genes that have already been identified. We describe how genes are found, but the main goal of this article is to outline what developmentalists can do with genes once they are found and, hence, to encourage the use of DNA markers in developmental research. We suggest that genes can be used to answer questions about developmental continuities, about psychopathological patterns, and about environmental risk mechanisms. Developmental questions include the causal mechanisms involved in heterotypic continuity. Questions on psychopathological patterns address heterogeneity (Do gene-behavior associations apply to disorders or to separate components representing risk or protective factors?), comorbidity (Are gene-behavior associations diagnosis-specific?), and the links between normality and disorder (Does a gene-behavior association for a disorder extend to related dimensions of normal variation and vice versa?). Questions about environmental risk mechanisms are informed by study of gene-environment interaction (Are individuals who are at genetic risk more sensitive to specific psychosocial risks?) and gene-environment correlation (Are individuals who are at genetic risk more likely to be exposed to psychosocial risk?).

摘要

与行为维度和障碍相关的基因已开始被识别。虽然寻找与行为相关的基因既困难又昂贵,但使用已识别的基因则相对容易且成本较低。我们描述了基因是如何被发现的,但本文的主要目的是概述发育学家在发现基因后能用它们做什么,从而鼓励在发育研究中使用DNA标记。我们认为基因可用于回答有关发育连续性、心理病理模式以及环境风险机制的问题。发育问题包括异型连续性所涉及的因果机制。关于心理病理模式的问题涉及异质性(基因与行为的关联适用于障碍还是代表风险或保护因素的不同组成部分?)、共病性(基因与行为的关联是否具有诊断特异性?)以及正常与障碍之间的联系(某种障碍的基因与行为关联是否延伸至正常变异的相关维度,反之亦然?)。关于环境风险机制的问题则通过对基因 - 环境相互作用(处于遗传风险中的个体对特定心理社会风险是否更敏感?)和基因 - 环境相关性(处于遗传风险中的个体是否更有可能暴露于心理社会风险?)的研究来解答。

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