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  1. 学術雑誌論文
  2. 琉球医学会
  3. 琉球医学会誌
  4. 20巻3号
  1. 部局別インデックス
  2. その他

[総説]小児科領域における遺伝子病の解析 : オルニチントランスカルバミラーゼ欠損症、アンジェルマン症候群

http://hdl.handle.net/20.500.12000/0002016155
http://hdl.handle.net/20.500.12000/0002016155
8f33651d-0868-4be2-bcbb-d62ff60c43f4
名前 / ファイル ライセンス アクション
v20p99.pdf v20p99.pdf
Item type デフォルトアイテムタイプ(フル)(1)
公開日 2010-07-02
タイトル
タイトル [総説]小児科領域における遺伝子病の解析 : オルニチントランスカルバミラーゼ欠損症、アンジェルマン症候群
言語 ja
作成者 松浦, 稔展

× 松浦, 稔展

ja 松浦, 稔展

Matsuura, Toshinobu

× Matsuura, Toshinobu

en Matsuura, Toshinobu

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
権利情報
言語 ja
権利情報 琉球医学会
主題
言語 en
主題Scheme Other
主題 OTC
言語 en
主題Scheme Other
主題 Angelman syndrome
言語 en
主題Scheme Other
主題 imprinting
言語 en
主題Scheme Other
主題 hyperammonemia
内容記述
内容記述タイプ Other
内容記述 During the last two decades, molecular biology has made striking progress and many genes responsible for human genetic diseases have been identified. A decade ago, it took months to analyze a gene in patients with certain geneticdisease. Now, advanced molecular biology technology allows us to analyze mutation(s) of the gene within a few days. This technology also indicates that more than one gene is responsible for one clinical entity. This means that we cannot fully understand the pathogeneses of a disease without considering the expression or regulation of plural genes. Thus, it is very crucial to obtain genetic information faster and more accurately than ever so as to analyze the involvement of genetic factors in diseases. With our unique molecular biological technique, we analyzed two distinct genetic diseases. One is ornithine transcarbamylase (OTC) deficiency, which is a single gene disorder caused by a defect of the urea cycle enzymes. We detected 40 mutations on the OTC gene, and clarified the relation between genotype and phenotype of OTC deficiency. The other disease is Angelman syndrome (AS), which is regarded as a contiguous gene syndrome, caused by defect of several genes on chromosome 15q11-q13. Our molecular analysis of this region showed that UBE3A gene, encoding E6-AP ubiquitin-protein ligase, played the most important role in AS.
内容記述タイプ Other
内容記述 論文
出版者
言語 ja
出版者 琉球医学会
言語
言語 jpn
資源タイプ
資源タイプ journal article
資源タイプ識別子 http://purl.org/coar/resource_type/c_6501
出版タイプ
出版タイプ VoR
出版タイプResource http://purl.org/coar/version/c_970fb48d4fbd8a85
収録物識別子
収録物識別子タイプ ISSN
収録物識別子 1346888X
収録物識別子タイプ ISSN
収録物識別子 0289-1530
収録物識別子タイプ NCID
収録物識別子 AN10369445
収録物名
言語 ja
収録物名 琉球医学会誌 = Ryukyu Medical Journal
書誌情報
巻 20, 号 3, p. 99-106
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