國家衛生研究院 NHRI:Item 3990099045/6953
English  |  正體中文  |  简体中文  |  全文筆數/總筆數 : 12500/13673 (91%)
造訪人次 : 2484683      線上人數 : 139
RC Version 6.0 © Powered By DSPACE, MIT. Enhanced by NTU Library IR team.
搜尋範圍 查詢小技巧：
  • 您可在西文檢索詞彙前後加上"雙引號"，以獲取較精準的檢索結果
  • 若欲以作者姓名搜尋，建議至進階搜尋限定作者欄位，可獲得較完整資料
    •  進階搜尋
    主頁 ‧ 登入 ‧ 上傳 ‧ 說明 ‧ 關於NHRI ‧ 管理 到手機版


    請使用永久網址來引用或連結此文件: http://ir.nhri.org.tw/handle/3990099045/6953


    題名: Genomic structural variations in patients with autism spectrum disorders from Taiwan
    作者: Chen, CH
    貢獻者: Division of Mental Health and Addiction Medicine
    摘要: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a high genetic basis in its etiology. Understanding the genetic underpinnings of ASD is the foundation for the advancement of the treatment of patients with ASD. The genetic basis of ASD is a complex and heterogeneous that may involve many genes, intergenic interactions, and gene-environment interactions. In this study, we conducted karyotype analysis and microarray based-comparative genomic hybridization (aCGH) analysis to understand the relationship between the genomic structural variations and ASD in our population. So far, we have detected two male patients with XXY, one male patient with XYY, one male with chromosomal translocation between chromosomes 4 and 14, one male patient with 4q deletion using conventional karyotyping analysis. In our aCGH study, we detected 17 submicroscopic genomic copy number variations (CNV) in a sample of 383 patients, with the frequency of approximately 4.4%. Among these 17 patients, 10 patients had de novo CNVs, while 7 patients had CNVs inherited from their parents. Notably, we found a patient who inherited a microduplication at 4q12-q13.1 from his mother, and a microdeletion at 5q32 from his father, indicating a compound double hits of genomic mutations might be associated with autism. Taken together, our study indicates that genomic structural variations contribute a significant role to the genetic underpinnings of ASD, and may shed a new insight into the pathogenesis of ASD.
    日期: 2012-10
    關聯: Asia-Pacific Psychiatry. 2012 Oct;4(Suppl. S1):52.
    Link to: http://dx.doi.org/10.1111/appy.12002
    JIF/Ranking 2023: http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=1758-5864&DestApp=IC2JCR
    Cited Times(WOS): https://www.webofscience.com/wos/woscc/full-record/WOS:000310467000121
    顯示於類別:[陳嘉祥(2009-2013)] 會議論文/會議摘要

    文件中的檔案:

    檔案 描述 大小格式瀏覽次數
    ISI000310467000121.pdf28KbAdobe PDF632檢視/開啟


    在NHRI中所有的資料項目都受到原著作權保護.

    TAIR相關文章

    DSpace Software Copyright © 2002-2004  MIT &  Hewlett-Packard  /   Enhanced by   NTU Library IR team Copyright ©   - 回饋