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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
http://hdl.handle.net/10091/171939897f1a4-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 (341.0 kB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
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| 公開日 | 2013-10-21 | |||||
| タイトル | ||||||
| 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 | |||||
| DOI | ||||||
| 関連識別子 | https://doi.org/10.1007/s12185-012-1100-3 | |||||
| 関連名称 | 10.1007/s12185-012-1100-3 | |||||
| キーワード | ||||||
| 主題 | Afibrinogenemia, A alpha-chain, Splicing abnormality, Deletion, Compound heterozygote | |||||
| 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 | |||||
| 著者 |
Takezawa, Yuka
× Takezawa, Yuka× Terasawa, Fumiko× Matsuda, Kazuyuki× Sugano, Mitsutoshi× Tanaka, Aiko× Fujiwara, Mitsuhiro× Kainuma, Keigo× Okumura, Nobuo |
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| 信州大学研究者総覧へのリンク | ||||||
| 表示名 | 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 |
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| 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 | ||||||
| 識別子タイプ | PMID | |||||
| 関連識別子 | https://pubmed.ncbi.nlm.nih.gov/22639050 | |||||
| 関連名称 | 22639050 | |||||
| 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 | |||||
