Evidence for allelic association on chromosome 3q25-27 in families with autism spectrum disorders originating from a subisolate of Finland
Evidence for allelic association on chromosome 3q25-27 in families with autism spectrum disorders originating from a subisolate of Finland
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DOI：
10.1038/sj.mp.4001299
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发表时间：
2003-01-01
影响因子：
11
通讯作者：
Järvelä, I
中科院分区：
文献类型：
--
作者：
Auranen, M;Varilo, T;Järvelä, I
最近关于自闭症和相关疾病的分子研究支持了疾病谱的多位点病因学。为了最大限度地提高基因和文化的同质性，我们将分子研究的重点放在起源于芬兰中部一个亚分离株的家族上。家谱研究使一个由12个患有自闭症和阿斯伯格综合症(AS)的核心家庭组成的巨家系得以确定。我们分析了在全基因组扫描中显示最高Lod分数的1q和3q上的两个染色体区域，以及染色体7q上的AUTS1基因座。对于3q25-27上的标记，与来自芬兰其他地区的家系相比，来自亚分离株的家系中观察到了更显著的关联。相反，在AUTS1基因座上没有明确的关联证据。特别是在染色体3Q上显示关联的较宽区间表明，该染色体区域上存在自闭症谱系障碍的基因座。
Recent molecular studies on autism and related disorders have supported a multilocus etiology for the disease spectrum. To maximize genetic and cultural homogeneity, we have focused our molecular studies to families originating from a subisolate of Central Finland. Genealogical studies enabled the identification of a megapedigree comprising of 12 core families with autism and Asperger syndrome (AS). We analyzed two chromosomal regions on 1q and 3q showing highest lod scores in our genome-wide scan, as well as the AUTS1 locus on chromosome 7q. For markers on 3q25-27, more significant association was observed in families from subisolate compared to families from the rest of Finland. In contrast, no clear evidence for association on AUTS1 locus was obtained. The wide interval showing association, in particular, on chromosome 3q suggests a locus for autism spectrum of disorders on this chromosomal region.