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认知能力与认知障碍的人类行为遗传学。

Human behavioural genetics of cognitive abilities and disabilities.

作者信息

Plomin R, Craig I

机构信息

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

出版信息

Bioessays. 1997 Dec;19(12):1117-24. doi: 10.1002/bies.950191211.

Abstract

Although neither the genome nor the environment can be manipulated in research on human behaviour, some of the new tools of molecular genetics can be brought to bear on human behavioural disorders (e.g. cognitive disabilities) and quantitative traits (e.g. cognitive abilities). The inability to manipulate the human genome experimentally has had the positive effect of focusing attention on naturally occurring genetic variation responsible for behavioural differences among individuals in all their complex multifactorial splendour. Genes in such complex multiple-gene systems are called quantitative trait loci (QTLs), which merge the two worlds of genetic research, quantitative genetics and molecular genetics. Although most genetic research on complex human behaviour has focused on severe mental disorders, cognitive abilities and disabilities may be even more immediately relevant to neuroscience. For example, verbal ability and spatial ability are two of the most heritable cognitive abilities, and reading disability is the first behavioural disability for which replicated QTL linkage has been found. The purpose of this essay is to provide an overview of the genetics of cognitive abilities and disabilities as an example of the impending merger of quantitative genetics and molecular genetics in QTL analysis of complex traits.

摘要

虽然在人类行为研究中,基因组和环境都无法被操控,但分子遗传学的一些新工具可用于研究人类行为障碍(如认知障碍)和数量性状(如认知能力)。无法通过实验操控人类基因组也产生了积极影响,即促使人们将注意力集中在自然发生的基因变异上,这些变异以其复杂的多因素特征导致了个体间的行为差异。在这种复杂的多基因系统中的基因被称为数量性状基因座(QTL),它融合了遗传研究的两个领域,即数量遗传学和分子遗传学。虽然大多数关于复杂人类行为的基因研究都集中在严重精神障碍上,但认知能力和障碍可能与神经科学的关联更为直接。例如,语言能力和空间能力是遗传性最强的两种认知能力,阅读障碍是首个发现有重复QTL连锁的行为障碍。本文旨在概述认知能力和障碍的遗传学,以此作为复杂性状QTL分析中数量遗传学和分子遗传学即将融合的一个例子。

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