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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4号

成人型Metachromatic Leukodystrophyの遺伝子異常の解析

http://hdl.handle.net/10191/38773
http://hdl.handle.net/10191/38773
4a67b86e-1d82-4f87-9ab6-e95d30b3e012
名前 / ファイル ライセンス アクション
105(4)_263-271.pdf 105(4)_263-271.pdf (2.1 MB)
Item type 紀要論文 / Departmental Bulletin Paper(1)
公開日 2016-02-26
タイトル
タイトル 成人型Metachromatic Leukodystrophyの遺伝子異常の解析
タイトル
言語 en
タイトル 成人型Metachromatic Leukodystrophyの遺伝子異常の解析
言語
言語 jpn
キーワード
主題Scheme Other
主題 adult type metachromatic leukodystrophy
キーワード
主題Scheme Other
主題 arylsulfatase A gene
キーワード
主題Scheme Other
主題 single base mutation
キーワード
主題Scheme Other
主題 成人型異染性白質変性症
キーワード
主題Scheme Other
主題 アリルスルファターゼA遺伝子
キーワード
主題Scheme Other
主題 1塩基変異
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 Analysis of Genetic Abnormality in a Patient with Adult Type Metachromatic Leukodystrophy
著者 近藤, 類

× 近藤, 類

WEKO 131289

近藤, 類

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著者別名
識別子 131290
識別子Scheme WEKO
姓名 Kondo, Rui
抄録
内容記述タイプ Abstract
内容記述 To better understand the molecular basis for adult type metachromatic leukodystrophy (MLD), I have determined a new mutation in the arylsulfatase A (ASA) gene of a patient with adult type MLD. The patient is a 35-year-old female. At the age of 24, slowly progressing dementia appeared and by the age of 30, she became severely demented and required assistance for daily activities. CT scan revealed brain atrophy and white matter low density, and nerve conduction velocities were found to be decreased in both upper and lower extremities. Pronounced reduction in myelinated fibers, thinning of myelin and accumulation of metachromatic materials were observed by sural nerve biopsy ASA activities in cultured skin fibroblasts of the patient were found to be markedly reduced compared with normal subjects. To analyze the genetic abnormality of the patient with adult type MLD, I first elucidated the genomic organizations of the human ASA gene and then compared the nucleotide sequences of exons and splice junctions of the mutant ASA gene with those of a normal control. I have identified a new mutation, G to A transition in exon 2, which results in amino acid substitution of Asp for Gly at codon 99 of the ASA protein. In transient expression study, COS cells transfected with the mutant cDNA carrying G to A transition did not show increase of ASA activity, which confirms the mutation as a cause of adult type MLD.
書誌情報 新潟医学会雑誌
en : 新潟医学会雑誌

巻 105, 号 4, p. 263-271, 発行日 1991-04
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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