Analysis of reelin as a candidate gene for autism
Analysis of reelin as a candidate gene for autism
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DOI：
10.1038/sj.mp.4001310
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发表时间：
2003-01-01
影响因子：
11
通讯作者：
Monaco, AP
中科院分区：
文献类型：
--
作者：
Bonora, E;Beyer, KS;Monaco, AP
遗传学研究表明，染色体7q可能含有自闭症易感基因(AUTS1)。我们采用了定位候选基因的方法来寻找相关基因(S)，并在此报告了位于我们连锁高峰下的一个基因reelin(RELN)的分析。筛查RELN的DNA变化发现新的错义变异在一个大的对照组中缺失；然而，这些突变的低频率并不能解释7q上相对较强的连锁结果。此外，利用传递不平衡检验对先前报道的一个三联体重复多态和基因内单核苷酸多态进行分析，没有证据表明IMGSAC和德国单生子家庭与自闭症有关。对RELN的分析表明，它可能在自闭症病因学中不起主要作用，尽管在其他受影响的人中，有必要进一步分析几个错义突变。
Genetic studies indicate that chromosome 7q is likely to contain an autism susceptibility locus (AUTS1). We have followed a positional candidate gene approach to identify relevant gene(s) and report here the analysis of reelin ( RELN), a gene located under our peak of linkage. Screening RELN for DNA changes identified novel missense variants absent in a large control group; however, the low frequency of these mutations does not explain the relatively strong linkage results on 7q. Furthermore, analysis of a previously reported triplet repeat polymorphism and intragenic single nucleotide polymorphisms, using the transmission disequilibrium test, provided no evidence for association with autism in IMGSAC and German singleton families. The analysis of RELN suggests that it probably does not play a major role in autism aetiology, although further analysis of several missense mutations is warranted in additional affected individuals.