拷贝数变异与自闭症：新见解及临床意义
Copy number variation and autism: new insights and clinical implications.
作者信息
Chung Brian Hon-Yin, Tao Victoria Qinchen, Tso Winnie Wan-Yee
机构信息
Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region; Department of Obstetrics and Gynaecology, Tsan Yuk Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region; Centre of Reproduction, Development and Growth, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region.
Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region.
出版信息
J Formos Med Assoc. 2014 Jul;113(7):400-8. doi: 10.1016/j.jfma.2013.01.005. Epub 2013 Mar 13.
Genomic research can lead to discoveries of copy number variations (CNVs) which can be a susceptibility factor for autism spectrum disorder (ASD). The clinical translation is that this can improve the care of children with ASD. Chromosome microarray is now the first-tiered genetic investigation for ASD, with a detection rate exceeding conventional cytogenetics and any single gene testing. However, interpretation of the results is challenging and there is no consensus on "what" and "how much" to disclose. In this article, we will review how CNV studies have improved our understanding of ASD, the clinical applications, and related counseling issues. Future direction of autism genetic research is also discussed.
基因组研究能够带来对拷贝数变异（CNV）的发现，而拷贝数变异可能是自闭症谱系障碍（ASD）的一个易感性因素。其临床意义在于，这能够改善对自闭症谱系障碍患儿的护理。染色体微阵列现在是针对自闭症谱系障碍的一级基因检测手段，其检测率超过了传统细胞遗传学检测以及任何单基因检测。然而，结果的解读具有挑战性，对于“披露什么”以及“披露多少”尚无共识。在本文中，我们将回顾拷贝数变异研究如何增进了我们对自闭症谱系障碍的理解、其临床应用以及相关的咨询问题。还将讨论自闭症基因研究的未来方向。
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