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Wilson病における遺伝子解析
https://doi.org/10.24517/00063978
https://doi.org/10.24517/00063978db0fe077-8b7b-4f00-8caa-437cb9cefb6b
| 名前 / ファイル | ライセンス | アクション |
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HO-PR-OKADA-T-kaken 2002-2p.pdf (94.1 kB)
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| アイテムタイプ | 報告書 / Research Paper(1) | |||||
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| 公開日 | 2021-09-10 | |||||
| タイトル | ||||||
| タイトル | Wilson病における遺伝子解析 | |||||
| タイトル | ||||||
| タイトル | Gene analysis of Wilson's disease | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | jpn | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_18ws | |||||
| 資源タイプ | research report | |||||
| ID登録 | ||||||
| ID登録 | 10.24517/00063978 | |||||
| ID登録タイプ | JaLC | |||||
| 著者 |
岡田, 俊英
× 岡田, 俊英 |
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| 提供者所属 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | 金沢大学医学部・附属病院 | |||||
| 書誌情報 |
平成12(2000)年度 科学研究費補助金 基盤研究(C) 研究成果報告書概要 en : 2000 Fiscal Year Final Research Summary 巻 1999 – 2000, p. 2p., 発行日 2002-03-25 |
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| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | 【背景】Wilson病は原因遺伝子ATP7Bの異常により銅代謝障害が起こり、肝臓を中心とした種々の臓器障害をきたす常染色体劣性遺伝性疾患である。我々はこれまでに同疾患患者においてATP7Bの遺伝子解析を行い、種々の変異を同定し、遺伝子型-臨床型関連等につき検討してきたが、Wilson病の中でも極めて予後不良な劇症肝炎型Wilson病においては世界的にも検討された例はない。【目的】劇症肝炎型Wilson病症例において遺伝子型-臨床型関連等につき検討した。【対象と方法】インフォームドコンセントの上、全国から協力して頂いた劇症肝炎型Wilson病患者4人(3家系)を含む51人(45家系)を対象としてATP7Bを解析した。【結果】1.特定の変異と臨床型の間には明らかな関連は見いだされなかった。2.変異によって生じる蛋白の形から、2つのallelesが共にinsertion,deletion,nonsense mutation,splice site mutationからなるtruncated群(T群)と、少なくとも1つのalleleがmissense mutationからなるmissense群(M群)に分類すると、劇症肝炎型Wilson病症例は全例T群であり、有意差を持って非劇症肝炎型Wilson病症例よりT群である頻度が高かった。【結語】今回の検討では劇症肝炎型Wilson病症例が少なく、今後の更なる検討を要するが、truncated群が劇症肝炎型Wilson病発病の一つの危険因子である可能性があり、同群に属する症例では慎重に臨床経過を追う必要があると考えれた。 | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Background : Fulminant hepatic failure is rare but fatal manifestation of Wilson's disease (WD). Although many mutations of the gene WD (ATP7B) have been reported, genotype-phenotype correlation in WD was not completely investigated and specific mutations related to fulminant hepatic failure have not been found. Aims : In this study, we, detected mutations of ATP7B among Japanese patients with WD including patients with fulminant hepatic failure and sought the correlation between mutations and phenotypes. We also sought to determine if genotypic assignment according to the types of protein-product could be related to the prevalence of fulminant hepatic failureamong the patients with WD.Subjects : NDA was isolated from peripheral blood collected from 45 unrelated Japanese families including 51 patients with WD.Methods : 1) Each exon of ATP7B was amplified by PCR, and the products were screened by SSCP.When abnormal bans were detected by SSCP, patient DNA was directly sequenced to identify the mutations. 2) Out of patients we selected homozygotes and searched for correlations between each mutation and clinical manifestations and serum ceruloplasmin level. 3) We divided the genotypes into two groups according to their types of ATP7B product (Truncated group [T] : two truncated alleles including nonsense, insertion, deletion, and splice site mutation, Missense group [M] : one or two missense alleles). We also divided the phenotypes into two groups (Fulminant hepatic failure [F] and [non-F] group). To assess the relation between the prevalence of fulminant hepatic failure (FHF) and genotypic groups ([T] and [M]), we performed a fisher's exact test. Results : 1) We indetified 22 mutations in 49 patients with WD.At least one mutation was detected in 49 patients out of 43 WD families. 2) Eleven families were homozygous. Regarding each homozygote including more than two unrelated families, there was no correlation between mutation and phenotype. 3) Genetically 11 patients were assigned to [T] group and 31 to [M] group. Phenotypically, 4 patients were [F] group and 38 were [non-F] group. All patients in [F] group belong to [T] group. The prevalence of FHF in [T] group was 36.4% and significantly higher than in [M]. group (p<0.003). Conclusions : Although there was no correlation between each mutation and phenotypes, genotypic assignment according to the types of protein-product, truncated or not truncated, revealed that phenotypes for truncation of ATP7B were associated with high prevalence of hueminnt hepatic failure. | |||||
| 内容記述 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | 研究課題/領域番号:11670487, 研究期間(年度):1999 – 2000 | |||||
| 内容記述 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | 出典：「Wilson病における遺伝子解析」研究成果報告書 課題番号11670487 （KAKEN：科学研究費助成事業データベース（国立情報学研究所）） （ https://kaken.nii.ac.jp/ja/report/KAKENHI-PROJECT-11670487/116704872000kenkyu_seika_hokoku_gaiyo/ ）を加工して作成 |
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| 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 | |||||
| 関連URI | ||||||
| 識別子タイプ | URI | |||||
| 関連識別子 | https://kaken.nii.ac.jp/ja/search/?kw=20251944 | |||||
| 関連名称 | https://kaken.nii.ac.jp/ja/search/?kw=20251944 | |||||
| 関連URI | ||||||
| 識別子タイプ | URI | |||||
| 関連識別子 | https://kaken.nii.ac.jp/ja/grant/KAKENHI-PROJECT-11670487/ | |||||
| 関連名称 | https://kaken.nii.ac.jp/ja/grant/KAKENHI-PROJECT-11670487/ | |||||
| 関連URI | ||||||
| 識別子タイプ | URI | |||||
| 関連識別子 | https://kaken.nii.ac.jp/ja/report/KAKENHI-PROJECT-11670487/116704872000kenkyu_seika_hokoku_gaiyo/ | |||||
| 関連名称 | https://kaken.nii.ac.jp/ja/report/KAKENHI-PROJECT-11670487/116704872000kenkyu_seika_hokoku_gaiyo/ | |||||
