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The former was deep in intron 8 of FGG (IVS-8 deletion) and the latter in exon 9 of FGG (Ex-9 deletion), which is translated for the gamma\u0027-chain, but not the.A-chain. AWestern blot analysis of plasma fibrinogen from our patient revealed an aberrant gamma-chain that migrated slightly faster than the normal B beta-chain. Materials andmethods: To clarify the complex genetic mechanismunderlying Tsukuba I\u0027s hypodysfibrinogenemia induced by nucleotide deletions in two regions, we generated two minigenes incorporating each deletion region, transfected them into Chinese Hamster Ovary (CHO) cells, and analyzed RT-PCR products. We also established CHO cells producing the recombinant variant fibrinogen,gamma\u0027 409.A (Ex-9 deletion). Results and conclusions: Minigene I incorporating the IVS-8 deletion showed two products: a normal splicing product and the unspliced product. Minigene II incorporating the Ex-9 deletion only produced the unspliced product. The established gamma\u0027 409.A-CHOcells secreted variant fibrinogenmore effectively than normal fibrinogen. Therefore, the aberrant splicing products derived from the IVS-8 deletion cause hypofibrinogenemia most likely due to nonsense-mediated mRNA decay and the partial production of normal.A-and gamma\u0027-chains; moreover, the Ex-9 deletion causes hypodysfibrinogenemia due to the absence of normal.A-and gamma\u0027-chain production (hypofibrinogenemia) and augmented aberrant.\u0027-chain production (dysfibrinogenemia). (C) 2016 Elsevier Ltd. 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  1. 050 医学部, 大学院医学系研究科
  2. 0501 学術論文

Genetic analyses of novel compound heterozygous hypodysfibrinogenemia, Tsukuba I: FGG c.1129+62_65 del AATA and FGG c.1299+4 del A

http://hdl.handle.net/10091/00019777
http://hdl.handle.net/10091/00019777
6671d912-becb-474b-98ec-405e063f9020
名前 / ファイル ライセンス アクション
Genetic_analyses_of_novel_compound_heterozygous_hypodysfibrinogenemia.pdf Genetic_analyses_of_novel_compound_heterozygous_hypodysfibrinogenemia.pdf (900.6 kB)
Item type 学術雑誌論文 / Journal Article(1)
公開日 2017-07-05
タイトル
言語 en
タイトル Genetic analyses of novel compound heterozygous hypodysfibrinogenemia, Tsukuba I: FGG c.1129+62_65 del AATA and FGG c.1299+4 del A
言語
言語 eng
キーワード
主題Scheme Other
主題 Frameshift mutation
キーワード
主題Scheme Other
主題 Hypodysfibrinogenemia
キーワード
主題Scheme Other
主題 Splicing abnormality
キーワード
主題Scheme Other
主題 gamma A-chain
キーワード
主題Scheme Other
主題 gamma '-chain
資源タイプ
資源 http://purl.org/coar/resource_type/c_6501
タイプ journal article
著者 Mukai, Saki

× Mukai, Saki

WEKO 103774

en Mukai, Saki

Search repository
Nagata, Kazuhiro

× Nagata, Kazuhiro

WEKO 103775

en Nagata, Kazuhiro

Search repository
Ikeda, Minami

× Ikeda, Minami

WEKO 103776

en Ikeda, Minami

Search repository
Arai, Shinpei

× Arai, Shinpei

WEKO 103777

en Arai, Shinpei

Search repository
Sugano, Mitsutoshi

× Sugano, Mitsutoshi

WEKO 103778

en Sugano, Mitsutoshi

Search repository
Honda, Takayuki

× Honda, Takayuki

WEKO 103779

en Honda, Takayuki

Search repository
Okumura, Nobuo

× Okumura, Nobuo

WEKO 103780

en Okumura, Nobuo

Search repository
信州大学研究者総覧へのリンク
氏名 Honda, Takayuki
URL http://soar-rd.shinshu-u.ac.jp/profile/ja.WeDUHFkh.html
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 PERGAMON-ELSEVIER SCIENCE LTD
引用
内容記述タイプ Other
内容記述 THROMBOSIS RESEARCH. 148:111-117 (2016)
書誌情報 THROMBOSIS RESEARCH

巻 148, p. 111-117, 発行日 2016-12
内容記述
内容記述タイプ Other
内容記述 Epub 2016 Nov 5
抄録
内容記述タイプ Abstract
内容記述 Introduction: Wefound a novel hypodysfibrinogenemia designated Tsukuba I caused by compound heterozygous nucleotide deletionswith FGG c. 1129+ 62_ 65 del AATA and FGG c. 1299+ 4 del A on different alleles. The former was deep in intron 8 of FGG (IVS-8 deletion) and the latter in exon 9 of FGG (Ex-9 deletion), which is translated for the gamma'-chain, but not the.A-chain. AWestern blot analysis of plasma fibrinogen from our patient revealed an aberrant gamma-chain that migrated slightly faster than the normal B beta-chain. Materials andmethods: To clarify the complex genetic mechanismunderlying Tsukuba I's hypodysfibrinogenemia induced by nucleotide deletions in two regions, we generated two minigenes incorporating each deletion region, transfected them into Chinese Hamster Ovary (CHO) cells, and analyzed RT-PCR products. We also established CHO cells producing the recombinant variant fibrinogen,gamma' 409.A (Ex-9 deletion). Results and conclusions: Minigene I incorporating the IVS-8 deletion showed two products: a normal splicing product and the unspliced product. Minigene II incorporating the Ex-9 deletion only produced the unspliced product. The established gamma' 409.A-CHOcells secreted variant fibrinogenmore effectively than normal fibrinogen. Therefore, the aberrant splicing products derived from the IVS-8 deletion cause hypofibrinogenemia most likely due to nonsense-mediated mRNA decay and the partial production of normal.A-and gamma'-chains; moreover, the Ex-9 deletion causes hypodysfibrinogenemia due to the absence of normal.A-and gamma'-chain production (hypofibrinogenemia) and augmented aberrant.'-chain production (dysfibrinogenemia). (C) 2016 Elsevier Ltd. All rights reserved.
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 0049-3848
PubMed
識別子タイプ PMID
関連識別子 https://pubmed.ncbi.nlm.nih.gov/27837696
関連名称 27837696
DOI
識別子タイプ DOI
関連識別子 https://doi.org/10.1016/j.thromres.2016.11.002
関連名称 10.1016/j.thromres.2016.11.002
権利
権利情報 © 2016, Elsevier. Licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/
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=000391287100020
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