國家衛生研究院 NHRI:Item 3990099045/6515
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    题名: Identification and characterization of three inherited genomic copy number variations associated with familial schizophrenia
    作者: Liao, HM;Chao, YL;Huang, AL;Cheng, MC;Chen, YJ;Lee, KF;Fang, JS;Hsu, CH;Chen, CH
    贡献者: Division of Mental Health and Addiction Medicine
    摘要: Schizophrenia is a complex mental disorder with high degree of genetic influence in its etiology. Several recent studies revealed that copy number variations (CNVs) of genomic DNA contributed significantly to the genetic architecture of sporadic schizophrenia. This study aimed to investigate whether CNVs also contribute to the familial forms of schizophrenia. Using array-based comparative genomic hybridization technology, we searched for pathogenic CNV associated with schizophrenia in a sample of 60 index cases from multiplex schizophrenia families. We detected three inherited CNVs that were associated with schizophrenia in three families, including a microdeletion of ~4.4Mb at chromosome 6q12-q13, a microduplication of ~1Mb at chromosome 18q12.3, and an interstitial duplication of ~5Mb at chromosome 15q11.2-q13.1. Our data indicate that CNVs contribute to the genetic underpinnings of the familial forms of schizophrenia as well as of the sporadic form. As 15q11-13 duplication is a well-known recurrent CNV associated with autism in the literature, the detection of the 15q11.2-q13.1 duplication in our schizophrenia patients provides additional support to other studies reporting that schizophrenia is part of the clinical spectrum of 15q11-q13 duplication syndrome.
    日期: 2012-08
    關聯: Schizophrenia Research. 2012 Aug;139(1-3):229-236.
    Link to: http://dx.doi.org/10.1016/j.schres.2012.05.015
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=0920-9964&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000306124400037
    Cited Times(Scopus): http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=84863779385
    显示于类别:[陳嘉祥(2009-2013)] 期刊論文

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