Independent replication and initial fine mapping of 3p21 24 in Asperger syndrome -: art. no. e6
Independent replication and initial fine mapping of 3p21 24 in Asperger syndrome -: art. no. e6
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DOI：
10.1136/jmg.2005.033621
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发表时间：
2006-02-01
影响因子：
4
通讯作者：
Järvelä, I
中科院分区：
文献类型：
--
作者：
Rehnström, K;Ylisaukko-oja, T;Järvelä, I
背景：阿斯伯格综合征的特征是社会交往异常，以及重复和刻板的行为和兴趣。该性状被认为表现出复杂的遗传，但在一个家族子集中，遗传类似于常染色体显性模式。最近在芬兰的Asperger综合征家系中发现了与3p14-24连锁的病例，在D3S2432的最大多点NPLall为3.32。结果：在D3S2432(NPLall=3.83)上获得了两个数据集的最佳两点和多点对数(LOD)分数，两个家系的子集都对连锁有贡献。联合数据集的关联分析产生了与D3S2432和D3S1619关联的趋势。结论：本研究进一步证实了3q21-24是Asperger综合征的候选区域。
Background: Asperger syndrome is characterised by abnormalities in social interaction as well as repetitive and stereotyped behaviours and interests. The trait is thought to display complex inheritance, but in a subset of families the inheritance resembles the autosomal dominant model. Linkage to 3p14 - 24 has recently been reported in Asperger syndrome in Finnish families with a maximum multipoint NPLall of 3.32 at D3S2432.Methods: We have replicated linkage findings to 3p21 - 24 in 12 new extended Asperger syndrome families. Linkage analyses were performed separately for the 12 new families, and linkage and association analyses were also performed jointly with data from the original genome- wide screen.Results: Best two point and multipoint logarithm of the odds (LOD) scores in analyses of both data sets were obtained at D3S2432 (NPLall = 3.83) with both subsets of families contributing to linkage. Association analysis of the combined data set produced a trend towards association with D3S2432 and D3S1619.Conclusions: This study further validates 3q21 - 24 as a candidate region for Asperger syndrome.