孤独症是一种以语言障碍、社交障碍和刻板狭隘的兴趣为基本临床特征的广泛性发育障碍,常合并精神发育迟滞、感知觉和情绪等方面异常。至今,孤独症的发病原因和机制仍不清楚,但有关孤独症病因的遗传学研究仍是人们关注的热点。目前虽然认为孤独症是多基因遗传性疾病,但对其遗传学特性仍知之甚少。现对近年来国内外对孤独症的遗传学研究成果作一讲述。 Autism is a generalized developmental disorder characterized by language disorders, social barriers and narrow-minded interests. It is often associated with mental retardation, sensory and emotional disorders. So far, the causes and mechanisms of autism are still not clear, but the genetics of autism is still the focus of attention. Although at present autism is considered to be a polygenic hereditary disease, little is known about its genetic properties. Now in recent years at home and abroad on the genetics of autism research made a presentation.