The metabotropic glutamate receptor 8 gene at 7q31: partial duplication and possible association with autism
The metabotropic glutamate receptor 8 gene at 7q31: partial duplication and possible association with autism
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DOI：
10.1136/jmg.40.4.e42
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发表时间：
2003-04-01
影响因子：
4
通讯作者：
Huq, AHMM
中科院分区：
文献类型：
--
作者：
Serajee, FJ;Zhong, H;Huq, AHMM
方法从自闭症遗传资源交换中心（AGRE）获得196个家系的DNA样本。AGRE由治愈自闭症基金会开发和维护，是自闭症遗传研究的家庭DNA样本的中央储存库。21所有AGRE家族均包括至少两名患有自闭症、普格格综合征或广泛性发育障碍（PDD）（未另行说明）的受影响成员。AGRE家庭的诊断确认使用自闭症诊断访谈修订协议（ADI-R）。AGRE家族已被用于自闭症的基因组筛查7，来自200个家族的平均10 cM分辨率的基因型数据可在AGRE网站（www.阿格雷。org）的网站。包括ADI-R项目和算法评分的ADI-R表型数据也可从AGRE网站获得。本研究共纳入890例受试者。
METHODS Subjects DNA samples from 196 families were obtained from the Autism Genetic Resource Exchange (AGRE). AGRE, developed and maintained by the Cure Autism Now Foundation, is a central repository of family DNA samples for genetic studies of autism. 21 All AGRE families included at least two affected members with a diagnosis of autism, Asperger syndrome, or pervasive developmental disorder (PDD) not otherwise specified. Diagnoses of AGRE families were confirmed using the Autism Diagnostic Interview-Revised protocol (ADI-R). The AGRE families have been used in a genome screen for autism7 and genotype data from 200 families at an average 10 cM resolution are available online at the AGRE web site (www. agre. org). ADI-R phenotypic data including ADI-R items and algorithm scores are also available from the AGRE web site. For the present study, a total of 890 subjects were available.