WEKO3
アイテム
成人型Metachromatic Leukodystrophyの遺伝子異常の解析
http://hdl.handle.net/10191/38773
http://hdl.handle.net/10191/387734a67b86e-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 (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 | ||||||
| タイトル | 成人型Metachromatic Leukodystrophyの遺伝子異常の解析 | |||||
| 言語 | en | |||||
| 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 | Analysis of Genetic Abnormality in a Patient with Adult Type Metachromatic Leukodystrophy | |||||
| 著者 |
近藤, 類
× 近藤, 類 |
|||||
| 著者別名 | ||||||
| 識別子Scheme | WEKO | |||||
| 識別子 | 131290 | |||||
| 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 | |||||
