Eighteen Years of Molecular Genotyping the Hemophilia Inversion Hotspot: From Southern Blot to Inverse Shifting-PCR

The factor VIII gene (F8) intron 22 inversion (Inv22) is a paradigmatic duplicon-mediated rearrangement, found in about one half of patients with severe hemophilia A worldwide. The identification of this prevalent cause of hemophilia was delayed for nine years after the F8 characterization in 1984....

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Detalles Bibliográficos
Autores principales: Rossetti, Liliana C., Radic, Claudia P., Abelleyro, Miguel M., Larripa, Irene B., De Brasi, Carlos D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Diversity Preservation International (MDPI) 2011
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3211038/
https://www.ncbi.nlm.nih.gov/pubmed/22072947
http://dx.doi.org/10.3390/ijms12107271
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author Rossetti, Liliana C.
Radic, Claudia P.
Abelleyro, Miguel M.
Larripa, Irene B.
De Brasi, Carlos D.
author_facet Rossetti, Liliana C.
Radic, Claudia P.
Abelleyro, Miguel M.
Larripa, Irene B.
De Brasi, Carlos D.
author_sort Rossetti, Liliana C.
collection PubMed
description The factor VIII gene (F8) intron 22 inversion (Inv22) is a paradigmatic duplicon-mediated rearrangement, found in about one half of patients with severe hemophilia A worldwide. The identification of this prevalent cause of hemophilia was delayed for nine years after the F8 characterization in 1984. The aim of this review is to present the wide diversity of practical approaches that have been developed for genotyping the Inv22 (and related int22h rearrangements) since discovery in 1993. The sequence— Southern blot, long distance-PCR and inverse shifting-PCR—for Inv22 genotyping is an interesting example of scientific ingenuity and evolution in order to resolve challenging molecular diagnostic problems.
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spelling pubmed-32110382011-11-09 Eighteen Years of Molecular Genotyping the Hemophilia Inversion Hotspot: From Southern Blot to Inverse Shifting-PCR Rossetti, Liliana C. Radic, Claudia P. Abelleyro, Miguel M. Larripa, Irene B. De Brasi, Carlos D. Int J Mol Sci Review The factor VIII gene (F8) intron 22 inversion (Inv22) is a paradigmatic duplicon-mediated rearrangement, found in about one half of patients with severe hemophilia A worldwide. The identification of this prevalent cause of hemophilia was delayed for nine years after the F8 characterization in 1984. The aim of this review is to present the wide diversity of practical approaches that have been developed for genotyping the Inv22 (and related int22h rearrangements) since discovery in 1993. The sequence— Southern blot, long distance-PCR and inverse shifting-PCR—for Inv22 genotyping is an interesting example of scientific ingenuity and evolution in order to resolve challenging molecular diagnostic problems. Molecular Diversity Preservation International (MDPI) 2011-10-24 /pmc/articles/PMC3211038/ /pubmed/22072947 http://dx.doi.org/10.3390/ijms12107271 Text en © 2011 by the authors; licensee MDPI, Basel, Switzerland. http://creativecommons.org/licenses/by/3.0 This article is an open-access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/3.0/).
spellingShingle Review
Rossetti, Liliana C.
Radic, Claudia P.
Abelleyro, Miguel M.
Larripa, Irene B.
De Brasi, Carlos D.
Eighteen Years of Molecular Genotyping the Hemophilia Inversion Hotspot: From Southern Blot to Inverse Shifting-PCR
title Eighteen Years of Molecular Genotyping the Hemophilia Inversion Hotspot: From Southern Blot to Inverse Shifting-PCR
title_full Eighteen Years of Molecular Genotyping the Hemophilia Inversion Hotspot: From Southern Blot to Inverse Shifting-PCR
title_fullStr Eighteen Years of Molecular Genotyping the Hemophilia Inversion Hotspot: From Southern Blot to Inverse Shifting-PCR
title_full_unstemmed Eighteen Years of Molecular Genotyping the Hemophilia Inversion Hotspot: From Southern Blot to Inverse Shifting-PCR
title_short Eighteen Years of Molecular Genotyping the Hemophilia Inversion Hotspot: From Southern Blot to Inverse Shifting-PCR
title_sort eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-pcr
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3211038/
https://www.ncbi.nlm.nih.gov/pubmed/22072947
http://dx.doi.org/10.3390/ijms12107271
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