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ATM mutations in patients with ataxia telangiectasia screend by a hierarchical strategy.
https://repo.qst.go.jp/records/43912
https://repo.qst.go.jp/records/439120260e1f2-9773-4140-a88b-e9527b826719
| Item type | 学術雑誌論文 / Journal Article(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2005-12-16 | |||||
| タイトル | ||||||
| タイトル | ATM mutations in patients with ataxia telangiectasia screend by a hierarchical strategy. | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 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 | |||||
| アクセス権 | ||||||
| アクセス権 | metadata only access | |||||
| アクセス権URI | http://purl.org/coar/access_right/c_14cb | |||||
| 著者 |
Sasaki, Tomonari
× Sasaki, Tomonari× Tian, Huaize× Kukita, Yoji× Inazuka, Masakazu× Tahira, Tomoko× Imai, Takashi× Yamauchi, Masatake× Saito, Toshiyuki× Hori, Tadaaki× Hashimoto-Tamaoki, Tomoko× Komatsu, Kenshi× Nikaido, Osamu× Hayashi, Kenshi× 今井 高志× 山内 正剛× 齋藤 俊行× 堀 雅明 |
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| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | ATM has been identified as a gene that is responsible for ataxia telangiectasia (AT), a pleiotropic disorder of autosomal recessive inheritance. While many mutations of this gene in AT patients of various ethnicities have been reported, data on Japanese patients are scarce. In this report, we present the results of a thorough survey of ATM mutations in 14 unrelated AT patients, with an emphasis on Japanese subjects. We used a hierarchical strategy in which we extensively analyzed the entire coding region of the cDNA. In the first stage, point mutations were sought by PCR-SSCP in short patches. In the second and third stages, the products of medium- and long-patch PCR, each covering the entire region, were examined by agarose gel electrophoresis to search for length changes. We found a total of 15 mutations (including 12 new) and 4 polymorphisms. Abnormal splicing of ATM was frequent among Japanese, and no hotspot was obvious, suggesting no strong founder effects in this ethnic group. Eleven patients carried either one homozygous or two compound heterozygous mutations, one patient carried only one detectable heterozygous mutation, and no mutation was found in two patients. Overall, mutations were found in at least 75% of the different ATM alleles examined. Possible reasons for the inability to detect mutations in some patients are discussed. | |||||
| 書誌情報 |
Human Mutation 巻 12, p. 186-195, 発行日 1998 |
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| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 1059-7794 | |||||
