Copy Number Variation Disorders.
Copy Number Variation Disorders.
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DOI：
10.1007/s40142-017-0129-2
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发表时间：
2017-12
影响因子：
2.1
通讯作者：
Shaikh TH
中科院分区：
文献类型：
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作者：
Shaikh TH
拷贝数变异 (CNV) 疾病是由一个或多个基因的剂量不平衡引起的，其原因是缺失、重复或其他基因组重排，导致遗传物质的丢失或增加。多种以多种出生缺陷和神经发育异常为特征的疾病与相对较大 (>1 Mb) 且经常复发的 CNV 相关。 CNV 还与神经精神疾病的病因学有关，包括自闭症和精神分裂症以及其他常见的复杂疾病。因此，CNV 对人类健康和疾病具有重大影响。使用越来越高分辨率的全基因组分析极大地增强了遗传变异（包括 CNV）的检测。此外，来自大量健康对照的全面遗传变异数据的可用性有可能极大地提高患者样本中疾病相关遗传变异的识别。这篇综述讨论了目前关于 CNV 疾病的知识，包括其形成和表型结果的机制，以及当前检测方法和疾病关联的优点和局限性。
Copy number variation (CNV) disorders arise from the dosage imbalance of one or more gene(s), resulting from deletions, duplications or other genomic rearrangements that lead to the loss or gain of genetic material. Several disorders, characterized by multiple birth defects and neurodevelopmental abnormalities, have been associated with relatively large (>1 Mb) and often recurrent CNVs. CNVs have also been implicated in the etiology of neuropsychiatric disorders including autism and schizophrenia as well as other common complex diseases. Thus, CNVs have a significant impact on human health and disease. The use of increasingly higher resolution, genomewide analysis has greatly enhanced the detection of genetic variation, including CNVs. Furthermore, the availability of comprehensive genetic variation data from large cohorts of healthy controls has the potential to greatly improve the identification of disease associated genetic variants in patient samples. This review discusses the current knowledge about CNV disorders, including the mechanisms underlying their formation and phenotypic outcomes, and the advantages and limitations of current methods of detection and disease association.