Autism genetics: Methodological issues and experimental design  

作　　者：Roberto SACCO Carla LINTAS Antonio M.PERSICO 

机构地区：[1]Department of Child Neuropsychiatry and Laboratory of Molecular Psychiatry and Neurogenetics, University "Campus Bio-Medico" [2]Department of Experimental Neurosciences, I.R.C.C.S."Fondazione Santa Lucia"

出　　处：《Science China(Life Sciences)》2015年第10期946-957,共12页中国科学（生命科学英文版）

基　　金：supported by the Italian Ministry for University,Scientific Research and Technology;the Italian Ministry of Health,the Fondazione Giuseppe e Mafalda Luce(Milan,Italy);Autism Aid ONLUS(Naples,Italy);the Autism Speaks Foundation(Princeton,NJ);the Autism Research Institute(San Diego,CA);the European Union(IMI project EU-AIMS)

摘　　要：Autism is a complex neuropsychiatric disorder of developmental origin, where multiple genetic and environmental factors likely interact resulting in a clinical continuum between "affected" and "unaffected" individuals in the general population. During the last two decades, relevant progress has been made in identifying chromosomal regions and genes in linkage or association with autism, but no single gene has emerged as a major cause of disease in a large number of patients. The purpose of this paper is to discuss specific methodological issues and experimental strategies in autism genetic research, based on fourteen years of experience in patient recruitment and association studies of autism spectrum disorder in Italy.Autism is a complex neuropsychiatric disorder of developmental origin, where multiple genetic and environmental factors likely interact resulting in a clinical continuum between ＂affected＂ and ＂unaffected＂ individuals in the general population. During the last two decades, relevant progress has been made in identifying chromosomal regions and genes in linkage or association with autism, but no single gene has emerged as a major cause of disease in a large number of patients. The purpose of this paper is to discuss specific methodological issues and experimental strategies in autism genetic research, based on fourteen years of experience in patient recruitment and association studies of autism spectrum disorder in Italy.

关 键 词：autistic disorder ENDOPHENOTYPE genetic association GENETICS pervasive developmental disorders 

分 类 号：R749.94[医药卫生—神经病学与精神病学]