Gupta Abha R, State Matthew W
Child Study Center, Yale University School of Medicine, New Haven, Connecticut, USA.
Biol Psychiatry. 2007 Feb 15;61(4):429-37. doi: 10.1016/j.biopsych.2006.06.020. Epub 2006 Sep 25.
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 of the human genome project, and successful 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.
自闭症是一种具有强烈遗传倾向的疾病，据估计其遗传度超过90%。尽管如此，其具体的遗传病因在很大程度上仍不为人知。在过去几年中，快速发展的基因组技术、人类基因组计划的完成以及为增加可用于研究的脱氧核糖核酸样本数量而开展的成功合作努力，带来了关于自闭症谱系障碍遗传起源的首批确凿线索。本文探讨了基因发现工作所面临的障碍，并回顾了近期与自闭症谱系障碍相关的连锁分析、细胞遗传学和候选基因关联研究。此外，还考虑了未来研究的有前景的途径以及新兴基因组技术的潜在贡献。
