F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications
- Autores
- Abelleyro, Miguel Martin; Rossetti, Liliana Carmen; Curto, Maria de Los Angeles; Radic, Claudia Pamela; Marchione, Vanina Daniela; de Brasi, Carlos Daniel
- Año de publicación
- 2015
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- F8 intron 22 inversions (INV22), the commonest cause of severe haemophilia A (HA), are mostly represented by type I (INV22-1) and type II (INV22-2) patterns (4:1) using BclI-fragments´ based techniques such as inverse shifting-PCR (IS-PCR/2008). Using IS-PCR/2008, we identified unusual patterns of the INV22-1 and INV22-2 (characterised by no signals in the diagnostic test and conventional INV22-1/-2 patterns in the complementary test) in patients and carriers from two (0.6%) out of 308 Argentinean families with severe-HA. A theoretical analysis of the 85 SNPs embedded in the relevant BclI-fragments followed by PCR-BclI-RFLP analysis allowed identification of the SNP rs73563631*G allele associated with a new BclI-restriction site in all four patients of Family 1 and 2. Linkage analysis using seven F8-linked-STRs in the two families confirmed two unrelated haplotypes in phase with INV22-1/-2. Screening of 404 X-chromosomes from the Argentinean general population failed to detected SNP rs73563631*G allele (q<0.24%). A new version of the IS-PCR/2008 adding the genotyping of the new patterns (x) of INV22-1/-2 was developed. Clinical/biochemical characteristics (severity and inhibitor risks) of patients with INV22-1x/-2x were virtually equal to canonical INV22s. Our estimations predict the involvement of INV22-1x/-2x in about 2.7% (4/149) of INV22-affected cases worldwide.
Fil: Abelleyro, Miguel Martin. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
Fil: Rossetti, Liliana Carmen. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
Fil: Curto, Maria de Los Angeles. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular ; Argentina
Fil: Radic, Claudia Pamela. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
Fil: Marchione, Vanina Daniela. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
Fil: de Brasi, Carlos Daniel. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas ; Argentina - Materia
-
Inv22
Ha
F8
Xq28
Hemophilia - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
- Repositorio
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/42754
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F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implicationsAbelleyro, Miguel MartinRossetti, Liliana CarmenCurto, Maria de Los AngelesRadic, Claudia PamelaMarchione, Vanina Danielade Brasi, Carlos DanielInv22HaF8Xq28Hemophiliahttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3https://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3F8 intron 22 inversions (INV22), the commonest cause of severe haemophilia A (HA), are mostly represented by type I (INV22-1) and type II (INV22-2) patterns (4:1) using BclI-fragments´ based techniques such as inverse shifting-PCR (IS-PCR/2008). Using IS-PCR/2008, we identified unusual patterns of the INV22-1 and INV22-2 (characterised by no signals in the diagnostic test and conventional INV22-1/-2 patterns in the complementary test) in patients and carriers from two (0.6%) out of 308 Argentinean families with severe-HA. A theoretical analysis of the 85 SNPs embedded in the relevant BclI-fragments followed by PCR-BclI-RFLP analysis allowed identification of the SNP rs73563631*G allele associated with a new BclI-restriction site in all four patients of Family 1 and 2. Linkage analysis using seven F8-linked-STRs in the two families confirmed two unrelated haplotypes in phase with INV22-1/-2. Screening of 404 X-chromosomes from the Argentinean general population failed to detected SNP rs73563631*G allele (q<0.24%). A new version of the IS-PCR/2008 adding the genotyping of the new patterns (x) of INV22-1/-2 was developed. Clinical/biochemical characteristics (severity and inhibitor risks) of patients with INV22-1x/-2x were virtually equal to canonical INV22s. Our estimations predict the involvement of INV22-1x/-2x in about 2.7% (4/149) of INV22-affected cases worldwide.Fil: Abelleyro, Miguel Martin. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; ArgentinaFil: Rossetti, Liliana Carmen. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; ArgentinaFil: Curto, Maria de Los Angeles. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular ; ArgentinaFil: Radic, Claudia Pamela. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; ArgentinaFil: Marchione, Vanina Daniela. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; ArgentinaFil: de Brasi, Carlos Daniel. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas ; ArgentinaSchattauer Gmbh-Verlag Medizin Naturwissenschaften2015-10info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/42754Abelleyro, Miguel Martin; Rossetti, Liliana Carmen; Curto, Maria de Los Angeles; Radic, Claudia Pamela; Marchione, Vanina Daniela; et al.; F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications; Schattauer Gmbh-Verlag Medizin Naturwissenschaften; Thrombosis and Haemostasis; 115; 3; 10-2015; 678-6810340-6245CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1160/TH15-08-0643info:eu-repo/semantics/altIdentifier/url/https://www.thieme-connect.com/products/ejournals/abstract/10.1160/th15-08-0643info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:42:33Zoai:ri.conicet.gov.ar:11336/42754instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 09:42:34.099CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
dc.title.none.fl_str_mv |
F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications |
title |
F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications |
spellingShingle |
F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications Abelleyro, Miguel Martin Inv22 Ha F8 Xq28 Hemophilia |
title_short |
F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications |
title_full |
F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications |
title_fullStr |
F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications |
title_full_unstemmed |
F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications |
title_sort |
F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications |
dc.creator.none.fl_str_mv |
Abelleyro, Miguel Martin Rossetti, Liliana Carmen Curto, Maria de Los Angeles Radic, Claudia Pamela Marchione, Vanina Daniela de Brasi, Carlos Daniel |
author |
Abelleyro, Miguel Martin |
author_facet |
Abelleyro, Miguel Martin Rossetti, Liliana Carmen Curto, Maria de Los Angeles Radic, Claudia Pamela Marchione, Vanina Daniela de Brasi, Carlos Daniel |
author_role |
author |
author2 |
Rossetti, Liliana Carmen Curto, Maria de Los Angeles Radic, Claudia Pamela Marchione, Vanina Daniela de Brasi, Carlos Daniel |
author2_role |
author author author author author |
dc.subject.none.fl_str_mv |
Inv22 Ha F8 Xq28 Hemophilia |
topic |
Inv22 Ha F8 Xq28 Hemophilia |
purl_subject.fl_str_mv |
https://purl.org/becyt/ford/3.1 https://purl.org/becyt/ford/3 https://purl.org/becyt/ford/3.1 https://purl.org/becyt/ford/3 |
dc.description.none.fl_txt_mv |
F8 intron 22 inversions (INV22), the commonest cause of severe haemophilia A (HA), are mostly represented by type I (INV22-1) and type II (INV22-2) patterns (4:1) using BclI-fragments´ based techniques such as inverse shifting-PCR (IS-PCR/2008). Using IS-PCR/2008, we identified unusual patterns of the INV22-1 and INV22-2 (characterised by no signals in the diagnostic test and conventional INV22-1/-2 patterns in the complementary test) in patients and carriers from two (0.6%) out of 308 Argentinean families with severe-HA. A theoretical analysis of the 85 SNPs embedded in the relevant BclI-fragments followed by PCR-BclI-RFLP analysis allowed identification of the SNP rs73563631*G allele associated with a new BclI-restriction site in all four patients of Family 1 and 2. Linkage analysis using seven F8-linked-STRs in the two families confirmed two unrelated haplotypes in phase with INV22-1/-2. Screening of 404 X-chromosomes from the Argentinean general population failed to detected SNP rs73563631*G allele (q<0.24%). A new version of the IS-PCR/2008 adding the genotyping of the new patterns (x) of INV22-1/-2 was developed. Clinical/biochemical characteristics (severity and inhibitor risks) of patients with INV22-1x/-2x were virtually equal to canonical INV22s. Our estimations predict the involvement of INV22-1x/-2x in about 2.7% (4/149) of INV22-affected cases worldwide. Fil: Abelleyro, Miguel Martin. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina Fil: Rossetti, Liliana Carmen. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina Fil: Curto, Maria de Los Angeles. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular ; Argentina Fil: Radic, Claudia Pamela. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina Fil: Marchione, Vanina Daniela. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina Fil: de Brasi, Carlos Daniel. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina. Academia Nacional de Medicina de Buenos Aires. Instituto de Investigaciones Hematológicas ; Argentina |
description |
F8 intron 22 inversions (INV22), the commonest cause of severe haemophilia A (HA), are mostly represented by type I (INV22-1) and type II (INV22-2) patterns (4:1) using BclI-fragments´ based techniques such as inverse shifting-PCR (IS-PCR/2008). Using IS-PCR/2008, we identified unusual patterns of the INV22-1 and INV22-2 (characterised by no signals in the diagnostic test and conventional INV22-1/-2 patterns in the complementary test) in patients and carriers from two (0.6%) out of 308 Argentinean families with severe-HA. A theoretical analysis of the 85 SNPs embedded in the relevant BclI-fragments followed by PCR-BclI-RFLP analysis allowed identification of the SNP rs73563631*G allele associated with a new BclI-restriction site in all four patients of Family 1 and 2. Linkage analysis using seven F8-linked-STRs in the two families confirmed two unrelated haplotypes in phase with INV22-1/-2. Screening of 404 X-chromosomes from the Argentinean general population failed to detected SNP rs73563631*G allele (q<0.24%). A new version of the IS-PCR/2008 adding the genotyping of the new patterns (x) of INV22-1/-2 was developed. Clinical/biochemical characteristics (severity and inhibitor risks) of patients with INV22-1x/-2x were virtually equal to canonical INV22s. Our estimations predict the involvement of INV22-1x/-2x in about 2.7% (4/149) of INV22-affected cases worldwide. |
publishDate |
2015 |
dc.date.none.fl_str_mv |
2015-10 |
dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
format |
article |
status_str |
publishedVersion |
dc.identifier.none.fl_str_mv |
http://hdl.handle.net/11336/42754 Abelleyro, Miguel Martin; Rossetti, Liliana Carmen; Curto, Maria de Los Angeles; Radic, Claudia Pamela; Marchione, Vanina Daniela; et al.; F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications; Schattauer Gmbh-Verlag Medizin Naturwissenschaften; Thrombosis and Haemostasis; 115; 3; 10-2015; 678-681 0340-6245 CONICET Digital CONICET |
url |
http://hdl.handle.net/11336/42754 |
identifier_str_mv |
Abelleyro, Miguel Martin; Rossetti, Liliana Carmen; Curto, Maria de Los Angeles; Radic, Claudia Pamela; Marchione, Vanina Daniela; et al.; F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications; Schattauer Gmbh-Verlag Medizin Naturwissenschaften; Thrombosis and Haemostasis; 115; 3; 10-2015; 678-681 0340-6245 CONICET Digital CONICET |
dc.language.none.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
info:eu-repo/semantics/altIdentifier/doi/10.1160/TH15-08-0643 info:eu-repo/semantics/altIdentifier/url/https://www.thieme-connect.com/products/ejournals/abstract/10.1160/th15-08-0643 |
dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
eu_rights_str_mv |
openAccess |
rights_invalid_str_mv |
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
dc.format.none.fl_str_mv |
application/pdf application/pdf application/pdf |
dc.publisher.none.fl_str_mv |
Schattauer Gmbh-Verlag Medizin Naturwissenschaften |
publisher.none.fl_str_mv |
Schattauer Gmbh-Verlag Medizin Naturwissenschaften |
dc.source.none.fl_str_mv |
reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas |
reponame_str |
CONICET Digital (CONICET) |
collection |
CONICET Digital (CONICET) |
instname_str |
Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.name.fl_str_mv |
CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.mail.fl_str_mv |
dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
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1844613340306866176 |
score |
13.070432 |