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Genomewide array comparative genomic hybridization in 55 Japanese normokaryotypic patients with non-syndromic intellectual disability
http://hdl.handle.net/10271/3224
http://hdl.handle.net/10271/322411ae3003-c980-4e68-a1a1-331fd1afc025
| 名前 / ファイル | ライセンス | アクション |
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論文本文 (315.2 kB)
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| Item type | 学位論文 / Thesis or Dissertation(1) | |||||
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| 公開日 | 2018-03-06 | |||||
| タイトル | ||||||
| タイトル | Genomewide array comparative genomic hybridization in 55 Japanese normokaryotypic patients with non-syndromic intellectual disability | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | Array comparative genomic hybridization | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | Intellectual disability | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | Copy number variants | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | Pathogenic gene | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | Clinical finding | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_db06 | |||||
| 資源タイプ | doctoral thesis | |||||
| アクセス権 | ||||||
| アクセス権 | open access | |||||
| アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||
| その他のタイトル | ||||||
| その他のタイトル | 正常核型を有する日本人非症候性知的障害患者55例のゲノムワイドアレイ比較ゲノムハイブリダイゼーション法による解析 | |||||
| 言語 | ja | |||||
| 著者 |
Asahina, Miki
× Asahina, Miki |
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| 書誌情報 |
en : Journal of Pediatric Neurological Disorders 巻 2, 号 1, p. 108, 発行日 2016-11-07 |
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| 出版者 | ||||||
| 出版者 | OMICS International | |||||
| 言語 | en | |||||
| 権利 | ||||||
| 言語 | en | |||||
| 権利情報 | Copyright: 2016 Asahina M, et al. | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Background: Genomewide array comparative genomic hybridization (aCGH) has widely been utilized as the diagnostic tool in patients with non-syndromic intellectual disability (ID). Indeed, aCGH has identified pathogenic copy number variants (pCNVs), as well as variants of uncertain clinical significance (VsUS) and benign CNVs (bCNVs), in such patients. Aims: To examine the frequencies of various CNVs and clinical findings in patients with non-syndromic ID. Patients and methods: We studied 55 Japanese normokaryotypic patients (35 males, 20 females) with apparently non-syndromic ID. Genomewide aCGH was performed using leukocyte genomic DNA samples. Clinical findings were compared among patients with pCNVs (group 1), those with VsUS (group 2), and those with bCNVs or no CNVs (group 3). Results: Nine patients had pCNVs: one had 5p deletion syndrome, two had 22q11.2 deletion syndrome, one had 17q23.1q23.2 microdeletion syndrome, three had CNVs involving known pathogenic genes, and the remaining two had CNVs overlapping with previously described CNVs in patients with ID (one with duplication at 1q36 and the other with deletion at 12q42). Furthermore, 11 patients had VsUS, and nine patients had bCNVs. Clinical findings were grossly comparable among groups 1-3. Conclusions: The results provide further support for the usefulness of aCGH in the identification of underlying genetic factor(s) for ID, although there was no clinical finding indicative of the presence of pCNVs or VsUS. Furthermore, our data are expected to serve to identify pathogenic genes on chromosomes 1q36 and 12q42, as well as those on several VsUS. |
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| 言語 | en | |||||
| 学位名 | ||||||
| 言語 | ja | |||||
| 学位名 | 博士（医学） | |||||
| 学位の区分 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | doctoral | |||||
| 言語 | en | |||||
| 学位の分野 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | 医学系研究科 | |||||
| 言語 | ja | |||||
| 学位授与機関 | ||||||
| 学位授与機関識別子Scheme | kakenhi | |||||
| 学位授与機関識別子 | 13802 | |||||
| 言語 | ja | |||||
| 学位授与機関名 | 浜松医科大学 | |||||
| 学位授与年月日 | ||||||
| 学位授与年月日 | 2017-03-13 | |||||
| 学位授与番号 | ||||||
| 学位授与番号 | 甲第758号 | |||||
| 出版社DOI | ||||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | https://doi.org/10.4172/2572-5203.1000108 | |||||
| 著者版フラグ | ||||||
| 出版タイプ | AM | |||||
| 出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||
