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儿童精神障碍的遗传学:关注自闭症和妥瑞氏症。

The genetics of child psychiatric disorders: focus on autism and Tourette syndrome.

机构信息

Department of Child Psychiatry, Yale University School of Medicine, New Haven, CT 06510, USA.

出版信息

Neuron. 2010 Oct 21;68(2):254-69. doi: 10.1016/j.neuron.2010.10.004.

Abstract

Investigations into the genetics of child psychiatric disorders have finally begun to shed light on molecular and cellular mechanisms of psychopathology. The first strains of success in this notoriously difficult area of inquiry are the result of an increasingly sophisticated appreciation of the allelic architecture of common neuropsychiatric and neurodevelopmental disorders, the consolidation of large patient cohorts now beginning to reach sufficient size to power reliable studies, the emergence of genomic tools enabling comprehensive investigations of rare as well as common genetic variation, and advances in developmental neuroscience that are fueling the rapid translation of genetic findings.

摘要

儿童精神疾病遗传学的研究终于开始揭示精神病理学的分子和细胞机制。在这个众所周知的困难研究领域中,第一批成功的成果是由于人们对常见神经精神和神经发育障碍的等位基因结构的认识不断加深,以及大型患者队列的整合,现在开始达到足够的规模以进行可靠的研究,出现了基因组工具,使对罕见和常见遗传变异的全面研究成为可能,以及发育神经科学的进步,这些都推动了遗传发现的快速转化。

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