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孤独症谱系障碍的相关遗传学机制研究进展
张翠芳李素水李秀萍袁芳
0
()
摘要:
孤独症谱系障碍(ASD)是一组高异质性的神经发育性障碍,遗传因素对发病起了重要作 用,解释了 25%~35% 患儿的发病原因,但遗传学机制还不清楚。分子遗传学研究发现 ASD 存在常见 和罕见拷贝数或单核苷酸变异体,突变基因编码蛋白质影响早期大脑发育,干扰神经元间的连接、突触 形成以及功能,可能是其病理学机制。
关键词:  孤独症谱系障碍  病因学机制  遗传学  综述
DOI:10.3969/j.issn.1009-6574.2020.04.013
基金项目:石家庄市科学技术研究与发展计划(171461593)
Research progress of genetic mechanisms in autism spectrum disorder
Zhang Cuifang, Li Sushui, Li Xiuping, Yuan Fang
()
Abstract:
Autism spectrum disorder(ASD) is a group of highly heterogeneous neurodevelopmental disorders. Genetic factor plays an important role in the pathogenesis, explaining the pathogeny in 25%-35% of children, however, the genetic mechanism is still unclear. Molecular genetics studies have found common and rare copy number or single nucleotide variants in ASD. Mutated genes encoded proteins affect early brain development and interfere with neuronal connections, synaptic formation and function, which may be its pathological mechanism
Key words:  Autism spectrum disorder  Etiological mechanism  Genetics  Review

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