Gupta Abha R, State Matthew W
Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA.
Braz J Psychiatry. 2006 May;28 Suppl 1:S29-38. doi: 10.1590/s1516-44462006000500005. Epub 2006 Jun 12.
Autism is a strongly genetic disorder, with an estimated heritability of greater than 90%. A combination of phenotypic heterogeneity and the likely involvement of multiple interacting loci have hampered efforts at gene discovery. As a consequence, the genetic etiology of the spectrum of autism related disorders remains largely unknown. Over the past several years, the convergence of rapidly advancing genomic technologies, the completion of the human genome project, and increasingly successful collaborative efforts to increase the number of patients available for study have led to the first solid clues to the biological origins of these disorders. This paper will review the literature to date summarizing the results of linkage, cytogenetic, and candidate gene studies with a focus on recent progress. In addition, promising avenues for future research are considered.
自闭症是一种具有强烈遗传倾向的疾病，估计遗传度超过90%。表型异质性以及多个相互作用基因座可能的参与，阻碍了基因发现的工作。因此，自闭症相关障碍谱系的遗传病因在很大程度上仍然未知。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，以及为增加可供研究的患者数量而日益成功的合作努力，已经为这些疾病的生物学起源带来了第一批确凿线索。本文将回顾迄今为止的文献，总结连锁分析、细胞遗传学和候选基因研究的结果，并重点关注近期进展。此外，还考虑了未来研究的有前景的途径。
