A genomewide screen for autism-spectrum disorders:: Evidence for a major susceptibility locus on chromosome 3q25-27
A genomewide screen for autism-spectrum disorders:: Evidence for a major susceptibility locus on chromosome 3q25-27
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DOI：
10.1086/342720
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发表时间：
2002-10-01
影响因子：
9.8
通讯作者：
Järvelä, I
中科院分区：
文献类型：
--
作者：
Auranen, M;Vanhala, R;Järvelä, I
为了确定自闭症谱系障碍的遗传位点，我们在38个芬兰家庭中进行了两阶段的全基因组扫描。对所有家庭成员的详细临床检查显示，在同一组家庭中，有婴儿自闭症，但也有巴氏综合征（AS）和发育性言语障碍。在染色体3q 25 -27上发现了最显著的连锁证据，D3 S3037的最大两点LOD得分为4.31（Z（max）（dom）），使用婴儿自闭症和AS作为情感状态。位于3q上5-cM区域两侧的6个标记给出Z（max）（dom）>3，并且在D3 S3715和D3 S3037附近获得了4.81的最大参数多点LOD得分（MLS）。协会，连锁不平衡，单倍型分析提供了一些证据，共同的祖先等位基因在这个染色体区域之间的受影响的个人，特别是在区域subisolate。在染色体1 q21 -22和7 q上观察到两点LOD值>2的额外的潜在易感位点。1 q21 -22上的区域与先前报道的婴儿自闭症和精神分裂症的候选区域重叠，而染色体7 q上的区域提供了距离先前描述的自闭症易感性位点（AUTS 1）58 cM的连锁证据。
To identify genetic loci for autism-spectrum disorders, we have performed a two-stage genomewide scan in 38 Finnish families. The detailed clinical examination of all family members revealed infantile autism, but also Asperger syndrome (AS) and developmental dysphasia, in the same set of families. The most significant evidence for linkage was found on chromosome 3q25-27, with a maximum two-point LOD score of 4.31 (Z(max) (dom)) for D3S3037, using infantile autism and AS as an affection status. Six markers flanking over a 5-cM region on 3q gave Z(max) (dom) >3, and a maximum parametric multipoint LOD score (MLS) of 4.81 was obtained in the vicinity of D3S3715 and D3S3037. Association, linkage disequilibrium, and haplotype analyses provided some evidence for shared ancestor alleles on this chromosomal region among affected individuals, especially in the regional subisolate. Additional potential susceptibility loci with two-point LOD scores >2 were observed on chromosomes 1q21-22 and 7q. The region on 1q21-22 overlaps with the previously reported candidate region for infantile autism and schizophrenia, whereas the region on chromosome 7q provided evidence for linkage 58 cM distally from the previously described autism susceptibility locus (AUTS1).