DSpace university logo mark
詳細検索
Japanese | English 

NAOSITE : Nagasaki University's Academic Output SITE > 110 医歯薬学総合研究科 > 110 学術雑誌論文 >

Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11: linkage analysis with clipped fingernail DNA on high-density SNP array.


ファイル 記述 サイズフォーマット
EJMG53_244.pdf2.3 MBAdobe PDF本文ファイル

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.
著者: Oikawa, Masahiro / Kuniba, Hideo / Kondoh, Tatsuro / Kinoshita, Akira / Nagayasu, Takeshi / Niikawa, Norio / Yoshiura, Koh-ichiro
発行日: 2010年 9月
出版者: Elsevier
引用: European journal of medical genetics, 53(5), pp.244-249; 2010
抄録: 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.
キーワード: Arteriovenous malformation / Fingernail DNA / GeneChip™ / Genomewide linkage analysis / Mutation search
URI: http://hdl.handle.net/10069/24459
ISSN: 17697212
DOI: 10.1016/j.ejmg.2010.06.007
PubMed ID: 20601259
権利: Copyright © 2010 Elsevier Masson SAS All rights reserved.
資料タイプ: Journal Article
原稿種類: author
出現コレクション:110 学術雑誌論文

引用URI : http://hdl.handle.net/10069/24459

このリポジトリに保管されている文献はすべて著作権により保護されています。
印刷やダウンロード等データの複製は、調査研究・教育または学習を目的とする場合に限定されます。

 

Valid XHTML 1.0! Copyright © 2006-2015 長崎大学附属図書館 - お問い合わせ Powerd by DSpace