Mutation screening and association analysis of six candidate genes for autism on chromosome 7q
Mutation screening and association analysis of six candidate genes for autism on chromosome 7q
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DOI：
10.1038/sj.ejhg.5201315
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发表时间：
2005-02-01
影响因子：
5.2
通讯作者：
Monaco, AP
中科院分区：
文献类型：
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作者：
Bonora, E;Lamb, JA;Monaco, AP
遗传学研究已经提供证据表明自闭症易感位点（AUTS1）在染色体7q上。在48例无亲缘关系的自闭症患者中，筛选了与7q、CUTL1、SRPK2、SYPL、LAMB1、NRCAM和PTPRZ1相关的6个基因突变，发现了CUTL1、LAMB1和PTPRZ1基因的几个新的编码变异。遗传变异分析为LAMB1中发现的一种新的错义变化提供了与自闭症相关的证据；这种影响在受影响的男性兄弟姐妹家庭的亚组中更强，这意味着这种变异可能存在特定的性别相关影响。在NRCAM的启动子和非翻译区也检测到一些多态性的关联，这表明该基因表达的改变可能与自闭症易感性有关。
Genetic studies have provided evidence for an autism susceptibility locus (AUTS1) on chromosome 7q. Screening for mutations in six genes mapping to 7q, CUTL1, SRPK2, SYPL, LAMB1, NRCAM and PTPRZ1 in 48 unrelated individuals with autism led to the identification of several new coding variants in the genes CUTL1, LAMB1 and PTPRZ1. Analysis of genetic variants provided evidence for association with autism for one of the new missense changes identified in LAMB1; this effect was stronger in a subgroup of affected male sibling pair families, implying a possible specific sex-related effect for this variant. Association was also detected for several polymorphisms in the promoter and untranslated region of NRCAM, suggesting that alterations in expression of this gene may be linked to autism susceptibility.