The genetics of autism spectrum disorders

被引:25
作者
Grice, Dorothy E.
Buxbaum, Joseph D. [1 ]
机构
[1] Mt Sinai Sch Med, Dept Psychiat, Lab Mol Neuropsychiat, New York, NY 10029 USA
[2] Mt Sinai Sch Med, Dept Neurosci, Lab Mol Neuropsychiat, New York, NY 10029 USA
[3] Mt Sinai Sch Med, Dept Geriatr & Adult Dev, Lab Mol Neuropsychiat, New York, NY 10029 USA
关键词
association; autism spectrum disorders; genetics; linkage; pervasive developmental disorders; susceptibility locus;
D O I
10.1385/NMM:8:4:451
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
Epidemiological twin studies demonstrate that autism spectrum disorders (ASDs) represent genetic disorders. Subsequent analyses indicate that the causes of ASDs include less common 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 appear to 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.
引用
收藏
页码:451 / 460
页数:10
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