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Hematological and chemical laboratory examinations of the peripheral blood showed no abnormalities. The contents of Hb F and Hb A2 in the total hemoglobin were within the normal range. This abnormally large size fragment was considered to be associated with the triplicatedγ-globin gene arrangement, Gγ-AγGγ-Aγ or Gγ-Gγ-Aγ by the enzymatic analysis. A family study showed that her mother had the same abnormal gene arrangement. The haplotype of the β-like gene cluster including γ-globin gene triplication, Hinc II 5\u0027 to the ε-gene, Xmn I 5\u0027 to the Gγ-gene, Hind III within the Gγ- and Aγ-genes, Hinc II within and 3\u0027 to the ψβ1-genes, Ava II within the β-gene and Bam HI 3\u0027 to the β-gene, was decided as +--(-)----+ (the minus sign in the parentheses means the absence of Hind III polymorphism within the second γ-globin gene in the triplicated γ-globin gene arrangement). 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正常成人にみられたγ-鎖グロビン遺伝子の配列異常
https://kwmed.repo.nii.ac.jp/records/617
https://kwmed.repo.nii.ac.jp/records/61727caf317-8e7e-40e5-a3b2-92e3caf873b6
名前 / ファイル | ライセンス | アクション |
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KJ00009816799.pdf (889.0 kB)
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Item type | [ELS]学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2017-01-23 | |||||
タイトル | ||||||
言語 | ja | |||||
タイトル | 正常成人にみられたγ-鎖グロビン遺伝子の配列異常 | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | Abnormal Arrangement of theγ-Globin Gene Found in a Normal Adult | |||||
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 | journal article | |||||
著者 |
土井, 和子
× 土井, 和子× 原野, 昭雄× Doi, Kazuko× Harano, Teruo |
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著者所属(日) | ||||||
ja | ||||||
川崎医療短期大学臨床検査科 | ||||||
著者所属(日) | ||||||
ja | ||||||
川崎医科大学生化学教室 | ||||||
著者所属(英) | ||||||
en | ||||||
Department of Medical Technology, Kawasaki College of Allied Health Professions | ||||||
著者所属(英) | ||||||
en | ||||||
Department of Biochemistry, Kawasaki Medical School | ||||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | Human γ-globin gene | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | γ-Globin gene triplication | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | Unequal crossover | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | β-Like gene haplotype | |||||
記事種別(日) | ||||||
内容記述タイプ | Other | |||||
内容記述 | 原著 | |||||
言語 | ja | |||||
抄録(日) | ||||||
ja | ||||||
DNAを制限酵素,Xmn IやBgl IIで消化後,γIVS II probeとhybridizationを行ったとき正常人にみられるDNAバンドのほかに大きなバンドを伴っている成人に遭遇した.末梢血液の血液学的,また化学的検査では異常は認められず,全ヘモグロビン中のHb F(%)やHb A2(%)もまた正常範囲内にあった.異常なDNAバンドは酵素分析によって調べられ,Gγ-AγGγ-AγまたはGγ-Gγ-Aγ型の三連鎖構造の存在によるものであった.この三連鎖構造を含むβ-鎖様遺伝子群のハプロタイプ,ε-遺伝子の5'Hinc II部位,Gγ-遺伝子の5'Xmn I部位,GγとAγ-遺伝子内のHind III部位,ψβ1-遺伝子内と3'Hinc II部位,β-遺伝子内のAva II部位とβ-遺伝子の3'Bam HI部位が調べられ,+--(-)----+と決定した(カッコ内の-の記号は三連鎖構造遺伝子の第二遺伝子のHind IIIポリモフィズムの不在を示す).このハプロタイプから日本人によくみられる同種のハプロタイプ,+------+,をもった染色体間の不均等交差によってγ-鎖異常配列をもった染色体が生成したものと考えられた. | ||||||
抄録(英) | ||||||
en | ||||||
A woman possessing an abnormally large size fragment together with a normal size fragment when her DNA was digested with the restriction endonucleases Xmn I and Bgl II and was hybridized with a γIVS II probe was discovered. Hematological and chemical laboratory examinations of the peripheral blood showed no abnormalities. The contents of Hb F and Hb A2 in the total hemoglobin were within the normal range. This abnormally large size fragment was considered to be associated with the triplicatedγ-globin gene arrangement, Gγ-AγGγ-Aγ or Gγ-Gγ-Aγ by the enzymatic analysis. A family study showed that her mother had the same abnormal gene arrangement. The haplotype of the β-like gene cluster including γ-globin gene triplication, Hinc II 5' to the ε-gene, Xmn I 5' to the Gγ-gene, Hind III within the Gγ- and Aγ-genes, Hinc II within and 3' to the ψβ1-genes, Ava II within the β-gene and Bam HI 3' to the β-gene, was decided as +--(-)----+ (the minus sign in the parentheses means the absence of Hind III polymorphism within the second γ-globin gene in the triplicated γ-globin gene arrangement). This newly produced β-like globin gene cluster might be derived by crossing over between two chromosomes having the same haplotype, +------+, which is more common in Japanese. | ||||||
書誌情報 |
ja : 川崎医学会誌 en : Kawasaki medical journal 巻 13, 号 3, p. 252-259, 発行日 1987 |
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URL | ||||||
識別子 | http://igakkai.kms-igakkai.com/wp/wp-content/uploads/1987/KMJ13(3)252-259.1987.pdf | |||||
識別子タイプ | URI | |||||
DOI | ||||||
識別子タイプ | DOI | |||||
関連識別子 | https://doi.org/10.11482/KMJ-J13(3)252 | |||||
ISSN | ||||||
収録物識別子タイプ | PISSN | |||||
収録物識別子 | 0386-5924 | |||||
ISSN | ||||||
収録物識別子タイプ | EISSN | |||||
収録物識別子 | 2758-089X | |||||
雑誌書誌ID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AN00045593 | |||||
雑誌書誌ID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AN12940574 | |||||
著者版フラグ | ||||||
出版タイプ | VoR |