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Copy-number variations associated with neuropsychiatric conditions

机译:与神经精神疾病有关的拷贝数变异

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摘要

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.
机译:长期以来,诸如自闭症和精神分裂症等神经精神疾病被归因于遗传改变,但事实证明,确定负责任的基因具有挑战性。现在,微阵列实验已经揭示了人类群体中大量的拷贝数变异-一种变异形式,其中DNA片段被复制,缺失甚至有时重新排列。受拷贝数变异影响的基因是研究疾病易感性的良好候选者。然而,神经精神病学遗传学的复杂性要求在综合的背景下考虑对拷贝数变异体及其影响基因的生物医学相关性进行评估。

著录项

  • 来源
    《Nature》 |2008年第7215期|p.919-923|共5页
  • 作者单位

    Institute for Juvenile Research, Department of Psychiatry, University of Illinois, 1747 West Roosevelt Road, Chicago, Illinois 60608, USA;

  • 收录信息 美国《科学引文索引》(SCI);美国《工程索引》(EI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 自然科学总论;
  • 关键词

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