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  1. 0 資料タイプ別
  2. 03 紀要論文
  1. 250 大学院医歯学総合研究科(医)
  2. 20 紀要
  3. 02 新潟医学会雑誌
  4. 第105巻第7号

5) 色素性乾皮症A群の分子遺伝学的解析(シンポジウム 免疫遺伝学の最近の話題, 第463回新潟医学会)

http://hdl.handle.net/10191/39297
http://hdl.handle.net/10191/39297
8d25dc3e-ac2c-491e-8e1f-bac4a9be1d24
名前 / ファイル ライセンス アクション
105(7)_458-469.pdf 105(7)_458-469.pdf (3.5 MB)
Item type 紀要論文 / Departmental Bulletin Paper(1)
公開日 2016-03-10
タイトル
タイトル 5) 色素性乾皮症A群の分子遺伝学的解析(シンポジウム 免疫遺伝学の最近の話題, 第463回新潟医学会)
タイトル
言語 en
タイトル 5) 色素性乾皮症A群の分子遺伝学的解析(シンポジウム 免疫遺伝学の最近の話題, 第463回新潟医学会)
言語
言語 jpn
キーワード
主題Scheme Other
主題 xeroderma pigmentosum
キーワード
主題Scheme Other
主題 XPAC gene
キーワード
主題Scheme Other
主題 DNA polymorphism
キーワード
主題Scheme Other
主題 色素性乾皮症
キーワード
主題Scheme Other
主題 XPAC遺伝子
キーワード
主題Scheme Other
主題 DNA多型
資源タイプ
資源 http://purl.org/coar/resource_type/c_6501
タイプ departmental bulletin paper
その他のタイトル
その他のタイトル Molecular Basis of Group A Xeroderma Pigmentosum(Topics of lmmunogenetics)
著者 里方, 一郎

× 里方, 一郎

WEKO 130723

里方, 一郎

Search repository
田中, 亀代次

× 田中, 亀代次

WEKO 130724

田中, 亀代次

Search repository
著者別名
識別子 130725
識別子Scheme WEKO
姓名 Satokata, Ichiro
著者別名
識別子 130726
識別子Scheme WEKO
姓名 Tanaka, Kiyoji
抄録
内容記述タイプ Abstract
内容記述 The molecular basis of group A xeroderma pigmentosum (XP) was studied and 3 mutations of the XP group A complementing gene (XPAC) were identified. One was a G→C transversion at the 3’splice acceptor site of intron 3, which caused aberrant RNA splicing resulting in loss of enzyme activity of the XPAC protein. This transversion creates a new cleavage site for the restriction nuclease AlwN I. Analysis of AlwN I restriction fragment length polymorphism (RFLP) showed a high frequency of this mutation in Japanese patients with group A XP: 16 of 21 unrelated Japanese patients were homozygous and 4 were heterozygous for this mutation. The Second mutation was a nucleotide transition altering the Arg-228 codon (CGA) to a nonsense codon (TGA). Of 21 unrelated Japanese group A XP patient examined, one was a homozygote for this mutation and 3 were compound heterozygotes for this mutation and for the splicing mutation of intron 3. The third mutation was a nucleotide transversion altering the Tyr-116 codon (TAT) to a nonsense codon (TAA). Of the Japanese patients, 2 had this mutant allele. The latter two mutations create new cleavage sites for the restriction nucleases Hph I and Mse I, respectively. Our data indicate that almost all Japanese cases of group A XP are caused by one or more of these 3 mutations. Therefore, by RFLP analysis of PCR-amplified DNA sequences using the 3 restriction enzymes, described above, rapid and reliable diagnosis of group A XP can be achieved in almost all Japanese subjects including prenatal cases and carriers.
書誌情報 新潟医学会雑誌
en : 新潟医学会雑誌

巻 105, 号 7, p. 458-469, 発行日 1991-07
出版者
出版者 新潟医学会
ISSN
収録物識別子タイプ ISSN
収録物識別子 00290440
書誌レコードID
収録物識別子タイプ NCID
収録物識別子 AN00182415
著者版フラグ
値 publisher
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