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Please use this identifier to cite or link to this item: http://hdl.handle.net/10271/3224

Title: Genomewide array comparative genomic hybridization in 55 Japanese normokaryotypic patients with non-syndromic intellectual disability
Other Titles: 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
Authors: Asahina, Miki
朝比奈, 美輝
Keywords: Array comparative genomic hybridization
Intellectual disability
Copy number variants
Pathogenic gene
Clinical finding
Issue Date: 7-Nov-2016
Publisher: OMICS International
Abstract: 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.
Description: 浜松医科大学学位論文 医博第758号(平成29年3月13日)
URI: http://hdl.handle.net/10271/3224
DOI: info:doi/10.4172/2572-5203.1000108
Academic Degrees and number: 13802甲第758号
Degree-granting date: 2017-03-13
Degree name: 博士(医学)
Degree-granting institutions: 浜松医科大学
Appears in Collections:2010 博士(論文)

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