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  1. 0 資料タイプ別
  2. 02 学位論文
  1. 250 大学院医歯学総合研究科(医)
  2. 60 博士学位論文
  3. 10 博士学位論文

Assessment of copy number variations in the brain genome of schizophrenia patients

http://hdl.handle.net/10191/35555
http://hdl.handle.net/10191/35555
48bb575a-e6e8-45df-b537-e5e999582ff5
名前 / ファイル ライセンス アクション
h27nmk652.pdf 本文 (1.1 MB)
h27nmk652_a.pdf 要旨 (179.0 kB)
Item type 学位論文 / Thesis or Dissertation(1)
公開日 2015-12-14
タイトル
タイトル Assessment of copy number variations in the brain genome of schizophrenia patients
タイトル
言語 en
タイトル Assessment of copy number variations in the brain genome of schizophrenia patients
言語
言語 eng
キーワード
主題Scheme Other
主題 CNV
キーワード
主題Scheme Other
主題 Caudate
キーワード
主題Scheme Other
主題 Genome instability
キーワード
主題Scheme Other
主題 Schizophrenia
キーワード
主題Scheme Other
主題 Somatic mutation
資源タイプ
資源 http://purl.org/coar/resource_type/c_46ec
タイプ thesis
その他のタイトル
その他のタイトル 統合失調症患者の脳内ゲノムにおけるコピー数変異の評価
著者 Sakai, Miwako

× Sakai, Miwako

WEKO 50649

Sakai, Miwako

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著者別名
識別子 50650
識別子Scheme WEKO
姓名 坂井, 美和子
抄録
内容記述タイプ Abstract
内容記述 Background: Cytogenomic mutations and chromosomal abnormality are implicated in the neuropathology of several brain diseases. Cell mosaicism of brain tissues makes their detection and validation difficult, however. In the present study, we analyzed gene dosage alterations in brain DNA of schizophrenia patients and compared those with the copy number variations (CNVs) identified in schizophrenia patients as well as with those in Asian lymphocyte DNA and attempted to obtain hints at the pathological contribution of cytogenomic instability in schizophrenia. Results: Brain DNA was extracted from postmortem striatum of schizophrenia patients and control subjects (n = 48 each) and subjected to the direct two color microarray analysis that limits technical data variations. Disease-associated biases of relative DNA doses were statistically analyzed with Bonferroni's compensation on the premise of brain cell mosaicism. We found that the relative gene dosage of 85 regions significantly varied among a million of probe sites. In the candidate CNV regions, 26 regions had no overlaps with the common CNVs found in Asian populations and included the genes (i.e., ANTXRL, CHST9, DNM3, NDST3, SDK1, STRC, SKY) that are associated with schizophrenia and/or other psychiatric diseases. The majority of these candidate CNVs exhibited high statistical probabilities but their signal differences in gene dosage were less than 1.5-fold. For test evaluation, we rather selected the other 10 CNV regions that exhibited higher aberration scores or larger global effects and are thus confirmable by PCR. Test PCR verified the loss of gene dosage at two loci (1p36.21 and 1p13.3) and confirmed the global variation of the copy number distributions at two loci (11p15.4 and 13q21.1), both indicating the utility of the present strategy. These test loci, however, exhibited the same somatic CNV patterns in the other brain region. Conclusions: The present study lists the candidate regions potentially representing cytogenomic CNVs in the brain of schizophrenia patients, although the significant but modest alterations in their brain genome doses largely remain to be characterized further.
内容記述
内容記述タイプ Other
内容記述 学位の種類: 博士(医学). 報告番号: 甲第4063号. 学位記番号: 新大院博(医)甲第652号. 学位授与年月日: 平成27年9月24日
内容記述
内容記述タイプ Other
内容記述 Molecular Cytogenetics. 2015, 8, 46.
書誌情報 発行日 2015-09-24
出版者
出版者 新潟大学
DOI
識別子タイプ DOI
関連識別子 info:doi/10.1186/s13039-015-0144-5
権利
権利情報 Copyright(C) 2015 Sakai et al.; licensee BioMed Central. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
著者版フラグ
値 ETD
学位名
学位名 博士(医学)
学位授与機関
学位授与機関名 新潟大学
学位授与年月日
学位授与年月日 2015-09-24
学位授与番号
学位授与番号 13101甲第4063号
学位記番号
内容記述タイプ Other
内容記述 新大院博(医)甲第652号
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