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体質性黄疸（Crigler-Najjar症候群I型）の遺伝子異常の解析
http://hdl.handle.net/10422/1210
http://hdl.handle.net/10422/1210dffa778b-94f4-4991-974b-f6e0da14c84a
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
kiso05p001.pdf (5.1 MB)
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| Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2012-08-26 | |||||
| タイトル | ||||||
| タイトル | 体質性黄疸（Crigler-Najjar症候群I型）の遺伝子異常の解析 | |||||
| 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_6501 | |||||
| 資源タイプ | departmental bulletin paper | |||||
| その他のタイトル | ||||||
| その他のタイトル | Genetic defect of Crigler-Najjar syndrome type I detected in a Japanese patient | |||||
| タイトル（ヨミ） | ||||||
| その他のタイトル | タイシツセイ オウダン Crigler Najjar ショウコウグン Iガタ ノ イデンシ イジョウ ノ カイセキ | |||||
| 著者 |
佐藤, 浩
× 佐藤, 浩× 青野, 幸子× 笹岡, 佳子× 山本, 和雄× 深野, 美也× 小祝, 修× 土井田, 幸郎 |
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| 内容記述 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | Patients with CriglerNajjar syndrome type I inherit an autosomal recessive trait for unconjugated hyperbilirubinemia, which is characterized by a complete absence of bilirubin UDP-glucuronosyltransferase ( UDPGT ) activity. cDNAs encoding two human bilirubin UDPGT isoforms (Brl and Br2) were identified. Brl is constitutively expressed in hepatocytes, but Br2 is expressed by the induction of phenobarbital. Both cDNAs have a common region corresponding to exons 2-5 of a gene (Gnt -1) which encodes a family of UDPGT isoenzymes. Exon 1 is unique to each UDPGT. No base change was detected in the common exons and intron-exon boundaries m our patient. However, the exon 1 of Brl in the patient has a single nucleotide substitution of C to A at base position 855, and the substitution resulted in stop codon, suggesting the synthesis of an inactive truncated protein missing C-terminal 253 amino acid residues. No base change was detected in the exon 1 of Br2. These results suggest that besides the mutation of the exon 1 of Brl, the patient has an additional defect in the region regulating the expression of Br2 0r a gene encoding a protein related to phenobarbital induction. |
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| 書誌情報 |
滋賀医科大学基礎学研究 巻 5, p. 1-7, 発行日 1994-03 |
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| 出版者 | ||||||
| 出版者 | 滋賀医科大学 | |||||
| NCID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AN10217414 | |||||
| 資源タイプ | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | Departmental Bulletin Paper | |||||
