揭开自闭症之谜。
Unraveling autism.
作者信息
Stephan Dietrich A
机构信息
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ 85004, USA.
出版信息
Am J Hum Genet. 2008 Jan;82(1):7-9. doi: 10.1016/j.ajhg.2007.12.003.
Abstract
In this issue of AJHG, Alarcón et al.,(1) Arking et al.,(2) and Bakkaloglu et al.(3) identify a series of functional variants in the CNTNAP2 gene that unequivocally implicate this gene as causing Type 1 autism in the general population.
摘要
在本期《美国人类遗传学杂志》中，阿拉尔孔等人（1）、阿金等人（2）以及巴卡洛格鲁等人（3）在接触蛋白相关蛋白2（CNTNAP2）基因中鉴定出一系列功能性变异，明确表明该基因是导致普通人群中1型自闭症的病因。
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本文引用的文献
1
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.自闭症谱系障碍中接触蛋白相关蛋白样2的分子细胞遗传学分析与重测序
Am J Hum Genet. 2008 Jan;82(1):165-73. doi: 10.1016/j.ajhg.2007.09.017.
2
A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism.神经连接蛋白超家族成员CNTNAP2中的一种常见基因变异增加了自闭症的家族患病风险。
Am J Hum Genet. 2008 Jan;82(1):160-4. doi: 10.1016/j.ajhg.2007.09.015.
3
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.连锁分析、关联分析和基因表达分析确定接触蛋白相关蛋白2（CNTNAP2）为孤独症易感基因。
Am J Hum Genet. 2008 Jan;82(1):150-9. doi: 10.1016/j.ajhg.2007.09.005.
4
Contribution of SHANK3 mutations to autism spectrum disorder.SHANK3突变对自闭症谱系障碍的影响。
Am J Hum Genet. 2007 Dec;81(6):1289-97. doi: 10.1086/522590. Epub 2007 Oct 16.
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