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  1. 050 医学部, 大学院医学系研究科
  2. 0501 学術論文

Molecular analysis of afibrinogenemic mutations caused by a homozygous FGA1238 bp deletion, and a compound heterozygous FGA1238 bp deletion and novel FGA c.54+3A > C substitution

http://hdl.handle.net/10091/17193
9897f1a4-b5ec-40a7-9d76-7815440baff1
名前 / ファイル ライセンス アクション
Molecular_analysis_afibrinogenemic_mutations_FGA1238_FGA1238.pdf Molecular_analysis_afibrinogenemic_mutations_FGA1238_FGA1238.pdf (341.0 kB)
Item type 学術雑誌論文 / Journal Article(1)
公開日 2013-10-21
タイトル
言語 en
タイトル Molecular analysis of afibrinogenemic mutations caused by a homozygous FGA1238 bp deletion, and a compound heterozygous FGA1238 bp deletion and novel FGA c.54+3A > C substitution
言語
言語 eng
キーワード
主題Scheme Other
主題 Afibrinogenemia
キーワード
主題Scheme Other
主題 A alpha-chain
キーワード
主題Scheme Other
主題 Splicing abnormality
キーワード
主題Scheme Other
主題 Deletion
キーワード
主題Scheme Other
主題 Compound heterozygote
資源タイプ
資源 http://purl.org/coar/resource_type/c_6501
タイプ journal article
著者 Takezawa, Yuka

× Takezawa, Yuka

WEKO 6978

en Takezawa, Yuka

Search repository
Terasawa, Fumiko

× Terasawa, Fumiko

WEKO 6979

en Terasawa, Fumiko

Search repository
Matsuda, Kazuyuki

× Matsuda, Kazuyuki

WEKO 6980

en Matsuda, Kazuyuki

Search repository
Sugano, Mitsutoshi

× Sugano, Mitsutoshi

WEKO 6981

en Sugano, Mitsutoshi

Search repository
Tanaka, Aiko

× Tanaka, Aiko

WEKO 6982

en Tanaka, Aiko

Search repository
Fujiwara, Mitsuhiro

× Fujiwara, Mitsuhiro

WEKO 6983

en Fujiwara, Mitsuhiro

Search repository
Kainuma, Keigo

× Kainuma, Keigo

WEKO 6984

en Kainuma, Keigo

Search repository
Okumura, Nobuo

× Okumura, Nobuo

WEKO 6985

en Okumura, Nobuo

Search repository
信州大学研究者総覧へのリンク
氏名 Okumura, Nobuo
URL http://soar-rd.shinshu-u.ac.jp/profile/ja.OVnmgCkh.html
出版者
出版者 SPRINGER JAPAN KK
引用
内容記述タイプ Other
内容記述 INTERNATIONAL JOURNAL OF HEMATOLOGY. 96(1):39-46 (2012)
書誌情報 INTERNATIONAL JOURNAL OF HEMATOLOGY

巻 96, 号 1, p. 39-46, 発行日 2012-07
抄録
内容記述タイプ Abstract
内容記述 We identified two afibrinogenemic girls in two Japanese families and performed molecular analysis to clarify the mechanisms of fibrinogen defects. Genetic analyses were performed by PCR amplification of the fibrinogen gene and DNA sequence analysis. To analyze the mechanisms of mature fibrinogen defects in plasma, we cloned minigenes from the proposita's PCR-amplified DNA, transfected them into CHO cells, and sequenced the cDNA amplified with the RT reaction followed by PCR. Sequence analyses indicated that one was caused by a homozygous 1238 bp deletion of the fibrinogen A alpha-chain gene (FGA Delta 1238) and the other was a compound heterozygous FGA Delta 1238 and novel FGA c.54+3A > C substitution. The minigene corresponding to FGA Delta 1238 generates two aberrant mRNAs, both of which may induce a frameshift and terminate prematurely. In contrast, the minigene corresponding to FGA c.54+3A > C generates two aberrant mRNAs, one of which may induce a frameshift and terminate prematurely, and the other uses a cryptic 5' splice site in exon 1, resulting in the deletion of six amino acids in signal peptides. Molecular analyses of both genetic variants suggest that the lack of a mature A alpha-chain, impaired assembly, and/or secretion of the fibrinogen molecule may lead to afibrinogenemia.
資源タイプ(コンテンツの種類)
内容記述タイプ Other
内容記述 Article
ISSN
収録物識別子タイプ PISSN
収録物識別子 0925-5710
書誌レコードID
収録物識別子タイプ NCID
収録物識別子 AA10797094
PubMed
関連識別子
識別子タイプ PMID
関連識別子 https://pubmed.ncbi.nlm.nih.gov/22639050
関連名称
関連名称 22639050
DOI
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1007/s12185-012-1100-3
関連名称
関連名称 10.1007/s12185-012-1100-3
権利
権利情報 The original publication is available at www.springerlink.com
出版タイプ
出版タイプ AM
出版タイプResource http://purl.org/coar/version/c_ab4af688f83e57aa
WoS
表示名 Web of Science
URL http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000306430100005
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