自闭症及相关疾病的遗传结构

D.E. Grice , J.D. Buxbaum
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引用次数: 4

摘要

流行病学研究表明,自闭症谱系障碍(ASDs)是一种遗传性疾病。随后的分析表明,asd的病因包括罕见的单基因突变和染色体异常,以及多个相互作用的弱作用基因引起的asd。全基因组连锁分析已经确定了asd的几个易感位点,并且已经确定了可能代表asd易感基因的位置和功能候选基因。分析更多的大样本,使用全基因组关联和高通量变异检测将导致进一步的asd基因鉴定。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The genetic architecture of autism and related disorders

Epidemiological twin studies demonstrate that autism spectrum disorders (ASDs) represent genetic disorders. Subsequent analyses indicate that the causes of ASDs include rarer single gene mutations and chromosomal abnormalities, as well as ASDs caused by multiple interacting genes of weak effect. Genome-wide linkage analysis has identified several susceptibility loci for the ASDs, and positional and functional candidate genes have been identified that may represent susceptibility genes for the ASDs. Analysis of additional larger samples, and the use of genome-wide association and high-throughput variant detection will lead to the identification of further genes for ASDs.

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