Replication of autism linkage:: Fine-mapping peak at 17q21
Replication of autism linkage:: Fine-mapping peak at 17q21
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DOI：
10.1086/430278
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发表时间：
2005-06-01
影响因子：
9.8
通讯作者：
Geschwind, DH
中科院分区：
文献类型：
--
作者：
Cantor, RM;Kono, N;Geschwind, DH
自闭症是一种可遗传但遗传复杂的疾病，其特征是语言和相互社交方面的缺陷，并伴有重复和刻板印象的行为。就像许多基因复杂的疾病一样，无数的基因组扫描显示出不一致的结果。来自自闭症遗传资源交易所(AGRE_1)的345个家系的基因组扫描，给出了在没有女性患病的家系中17q11-17q21连锁的最有力的证据。在这里，我们报告了一个独立样本的全基因组扫描，该样本包括91个AGRE家系和109个受影响的同胞对(AGRE_2)，这也显示了在没有受影响的女性的家庭中与17q11-17q21连锁的最有力的证据。综上所述，这些样本提供了与该染色体区域的链接的复制，据我们所知，这是自闭症中的第一次这样的复制。在没有患病雌性家系的组合样本中，以2厘米为间隔的精细作图显示在66.85 cM处有一个连锁高峰，这将该基因座定位在17q21。
Autism is a heritable but genetically complex disorder characterized by deficits in language and in reciprocal social interactions, combined with repetitive and stereotypic behaviors. As with many genetically complex disorders, numerous genome scans reveal inconsistent results. A genome scan of 345 families from the Autism Genetic Resource Exchange (AGRE) (AGRE_1), gave the strongest evidence of linkage at 17q11-17q21 in families with no affected females. Here, we report a full-genome scan of an independent sample of 91 AGRE families with 109 affected sibling pairs (AGRE_2) that also shows the strongest evidence of linkage to 17q11-17q21 in families with no affected females. Taken together, these samples provide a replication of linkage to this chromosome region that is, to our knowledge, the first such replication in autism. Fine mapping at 2-centimorgan (cM) intervals in the combined sample of families with no affected females reveals a linkage peak at 66.85 cM, which places this locus at 17q21.