自闭症连锁反应的复制：17号染色体长臂21区的精细定位峰值
Replication of autism linkage: fine-mapping peak at 17q21.
作者信息
Cantor Rita M, Kono Naoko, Duvall Jackie A, Alvarez-Retuerto Ana, Stone Jennifer L, Alarcón Maricela, Nelson Stanley F, Geschwind Daniel H
机构信息
Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095-7088, USA.
出版信息
Am J Hum Genet. 2005 Jun;76(6):1050-6. doi: 10.1086/430278. Epub 2005 Apr 1.
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.
自闭症是一种具有遗传倾向但基因复杂的疾病，其特征在于语言和相互社交互动方面的缺陷，以及重复性和刻板行为。与许多基因复杂的疾病一样，众多的基因组扫描结果并不一致。对来自自闭症遗传资源交换库（AGRE）的345个家庭进行的基因组扫描（AGRE_1）显示，在没有受影响女性的家庭中，17q11 - 17q21区域存在最强的连锁证据。在此，我们报告了对91个AGRE家庭的独立样本进行的全基因组扫描结果，该样本中有109对受影响的同胞对（AGRE_2），结果同样显示在没有受影响女性的家庭中，与17q11 - 17q21区域的连锁证据最为显著。综合来看，据我们所知，这些样本提供了与该染色体区域连锁关系的重复验证，这是自闭症研究中的首次此类重复验证。在没有受影响女性的家庭组合样本中，以2厘摩（cM）间隔进行精细定位，发现连锁峰值位于66.85 cM处，该位点位于17q21。
Zotero 插件