Pseudo-exon activation caused by a deep-intronic mutation in the fibrinogen ?-chain gene as a novel mechanism for congenital afibrinogenaemia
| ISSN: | 1365-2141 0007-1048 |
|---|---|
| DOI: | 10.1111/j.1365-2141.2007.06758.x |
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6d754f1d09ddb8803d1b9a7eef93a28 https://doi.org/10.1111/j.1365-2141.2007.06758.x |
| Rights: | OPEN |
| Přírůstkové číslo: | edsair.doi.dedup.....a6d754f1d09ddb8803d1b9a7eef93a28 |
| Autor: | Maria Luisa Tenchini, Rosanna Asselta, Giancarlo Castaman, Silvia Spena, Manuela Platé, Stefano Duga |
| Rok vydání: | 2007 |
| Předmět: |
Male
Fibrinogen-gamma chain Genetics Proband DNA Mutational Analysis Alternative splicing Intron Fibrinogen Exons Hematology Biology Afibrinogenemia Molecular biology Introns Pedigree Alternative Splicing Exon Mutation Codon Terminator Humans Coding region Electrophoresis Polyacrylamide Gel Female splice Gene |
| Zdroj: | British Journal of Haematology. 139:128-132 |
| ISSN: | 1365-2141 0007-1048 |
| DOI: | 10.1111/j.1365-2141.2007.06758.x |
| Popis: | Congenital afibrinogenaemia, characterized by severe fibrinogen deficiency, is caused by mutations within FGA, FGB or FGG. Conventional sequencing of coding regions and splice signals of these three genes did not reveal any mutation in an afibrinogenaemic proband. After confirming disease co-segregation with the fibrinogen cluster, full intron sequencing was tackled leading to the identification of a novel transvertion within FGG intron 6 (IVS6-320A-->T). Its effect on mRNA processing was evaluated in-vitro: the in-frame inclusion of a 75-bp pseudo-exon carrying a premature stop was found, representing the first report of pseudo-exon activation as a mechanism leading to afibrinogenaemia. |
| Databáze: | OpenAIRE |
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