| アイテムタイプ |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2010-11-08 |
| タイトル |
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タイトル |
Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11: linkage analysis with clipped fingernail DNA on high-density SNP array. |
| 言語 |
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言語 |
eng |
| キーワード |
|
|
主題Scheme |
Other |
|
主題 |
Arteriovenous malformation |
| キーワード |
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主題Scheme |
Other |
|
主題 |
Fingernail DNA |
| キーワード |
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主題Scheme |
Other |
|
主題 |
GeneChip™ |
| キーワード |
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主題Scheme |
Other |
|
主題 |
Genomewide linkage analysis |
| キーワード |
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主題Scheme |
Other |
|
主題 |
Mutation search |
| 資源タイプ |
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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 |
Oikawa, Masahiro
Kuniba, Hideo
Kondoh, Tatsuro
Kinoshita, Akira
Nagayasu, Takeshi
Niikawa, Norio
Yoshiura, Koh-ichiro
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| 抄録 |
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内容記述タイプ |
Abstract |
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内容記述 |
Familial arteriovenous malformations (AVM) in the brain is a very rare disease. It is defined as its occurrence in two or more relatives (up to third-degree relatives) in a family without any associated disorders, such as hereditary hemorrhagic telangiectasia. We encountered a Japanese family with brain AVM in which four affected members in four successive generations were observed. One DNA sample extracted from leukocytes of the proband and ten DNA samples from clipped finger nails of other members were available. A genome-wide linkage analysis was performed on this pedigree using Affymetrix GeneCip 10K 2.0 Xba Array and MERLIN software. We obtained sufficient performance of SNP genotyping in the fingernail samples with the mean SNP call rate of 92.49%, and identified 18 regions with positive LOD scores. Haplotype and linkage analyses with microsatellite markers at these regions confirmed three possible disease-responsible regions, i.e., 5p13.2-q14.1, 15q11.2-q13.1 and 18p11.32-p11.22. Sequence analysis was conducted for ten selected candidate genes at 5p13.2-q14.1, such as MAP3K1, DAB2, OCLN, FGF10, ESM1, ITGA1, ITGA2, EGFLAM, ERBB2IP, and PIK3R1, but no causative genetic alteration was detected. This is the first experience of adoption of fingernail DNA to genome-wide, high-density SNP microarray analysis, showing candidate brain AVM susceptible regions. |
| 書誌情報 |
European journal of medical genetics
巻 53,
号 5,
p. 244-249,
発行日 2010-09
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| 出版者 |
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出版者 |
Elsevier |
| ISSN |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
17697212 |
| EISSN |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
18780849 |
| 書誌レコードID |
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収録物識別子タイプ |
NCID |
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収録物識別子 |
AA12087180 |
| PubMed番号 |
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関連タイプ |
isVersionOf |
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|
識別子タイプ |
PMID |
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|
関連識別子 |
20601259 |
| DOI |
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|
関連タイプ |
isVersionOf |
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識別子タイプ |
DOI |
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|
関連識別子 |
10.1016/j.ejmg.2010.06.007 |
| 権利 |
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|
権利情報 |
Copyright © 2010 Elsevier Masson SAS All rights reserved. |
| 著者版フラグ |
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出版タイプ |
AM |
|
出版タイプResource |
http://purl.org/coar/version/c_ab4af688f83e57aa |
| 引用 |
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内容記述タイプ |
Other |
|
内容記述 |
European journal of medical genetics, 53(5), pp.244-249; 2010 |
EJMG53_244.pdf (2.4 MB)
