孤独性障碍及其相关的主要遗传综合征:从表型、蛋白到基因(英文)  

Principal genetic syndromes and autism: from phenotypes,proteins to genes

作　　者：侯萌[1] 王曼捷[1] Nanbert Zhong 

机构地区：[1]北京大学医学遗传中心

出　　处：《北京大学学报（医学版）》2006年第1期110-115,共6页Journal of Peking University:Health Sciences

基　　金：教育部教育振兴行动计划特殊专项("九八五"工程);国家"211工程"学科建设项目资助~~

摘　　要：Autism is a neurodevelopmental disorder characterized by impairments in social skills, language, and behavior. It is now clear that autism is not a disease, but a syndrome characterized by phenotypic and genetic complexity. The etiology of autism is still poorly understood. Available evidence from a variety of sources strongly suggests that many genetic disorders are frequently associated with autism for their similar phenotypes. Based on this fact, this review begins by highlighting several principal genetic syndromes consistently associated with autism (fragile X, tuberous sclerosis, Angelman syndrome, Pader-Willi syndrome, Rett syndrome, Down syndrome and Turner syndrome). These genetic disorders include both chromosome disorders and single gene disorders. By comparing the similar phenotype, protein marker and candidate genes, we might make some breakthrough in the mechanism of autism and other genetic disorders.Autism is a neurodevelopmental disorder characterized by impairments in social skills, language, and behavior. It is now clear that autism is not a disease, but a syndrome characterized by phenotypic and genetic complexity. The etiology of autism is still poorly understood. Available evidence from a variety of sources strongly suggests that many genetic disorders are frequently associated with autism for their similar phenotypes, Based on this fact, this review begins by highlighting several principal genetic syndromes consistently associated with autism （fragile X, tuberous sclerosis, Angelman syndrome, Pader-Willi syndrome, Rett syndronme, Down syndrome and Turner syndrome）. These genetic disorders include both chromosome disorders and single gene disorders. By comparing the similar phenotype, protein marker and candidate genes, we might make some breakthrough in the mechanism of autism and other genetic disorders.

关 键 词：孤独性障碍 表型 蛋白质类 基因 遗传综合征 

分 类 号：R749.94[医药卫生—神经病学与精神病学]