Recent advances in the genetics of autism
Recent advances in the genetics of autism
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DOI：
10.1016/j.biopsych.2006.06.020
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发表时间：
2007-02-15
影响因子：
10.6
通讯作者：
State, Matthew W.
中科院分区：
文献类型：
--
作者：
Gupta, Abha R.;State, Matthew W.
自闭症是一种强烈的遗传性疾病，估计遗传率超过50%。90%。尽管如此，其具体的遗传病因在很大程度上仍然未知。在过去的几年里，快速发展的基因组技术的融合，人类基因组计划的完成，以及在增加可用于研究的脱氧核糖核酸样本数量方面的成功合作，已经为自闭症谱系障碍的遗传起源提供了第一个可靠的线索。本文讨论了基因发现工作所面临的障碍，并回顾了最近与自闭症、谱系障碍相关的连锁、细胞遗传学和候选基因关联研究。此外，对未来的研究前景和新兴基因组技术的潜在贡献进行了考虑。
Autism is a strongly genetic disorder with an estimated heritability of greater than. 90%. Nonetheless, its specific genetic etiology remains largely unknown. Over the past several years, the convergence of rapidly advancing genomic technologies, the completion to the human genome project, and succesful collaborative efforts to increase the number of deoxyribonucleic acid samples available for study have led to the first solid clues regarding the genetic origins of autism spectrum disorders. This article addresses the obstacles that have confronted gene discovery efforts and reviews recent linkage, cytogenetic, and candidate gene association studies relevant to autism, spectrum disorders. In addition, promising avenues for future research and the potential contribution of emerging genomic technologies are considered.