Copy-number variations associated with neuropsychiatric conditions
Copy-number variations associated with neuropsychiatric conditions
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DOI：
10.1038/nature07458
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发表时间：
2008-10-16
期刊：
影响因子：
64.8
通讯作者：
Scherer, Stephen W.
中科院分区：
文献类型：
--
作者：
Cook, Edwin H., Jr.;Scherer, Stephen W.
诸如自闭症和精神分裂症等神经精神疾病长期以来被归因于基因改变，但确定相关基因却颇具挑战性。微阵列实验现已揭示人类群体中存在大量的拷贝数变异——一种DNA片段重复、缺失，有时还会重排的变异类型。受拷贝数变异影响的基因是研究疾病易感性的良好候选对象。然而，神经精神遗传学的复杂性决定了需要在综合背景下考虑对拷贝数变异及其所影响基因的生物医学相关性的评估。
Neuropsychiatric conditions such as autism and schizophrenia have long been attributed to genetic alterations, but identifying the genes responsible has proved challenging. Microarray experiments have now revealed abundant copy- number variation - a type of variation in which stretches of DNA are duplicated, deleted and sometimes rearranged - in the human population. Genes affected by copy- number variation are good candidates for research into disease susceptibility. The complexity of neuropsychiatric genetics, however, dictates that assessment of the biomedical relevance of copy- number variants and the genes that they affect needs to be considered in an integrated context.