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
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/42754
Acceder
id CONICETDig_5b8ca3a0f6748ec4d10246e18bc9a14c
oai_identifier_str oai:ri.conicet.gov.ar:11336/42754
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling 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 Técnicas2025-11-12T09:38:04Zoai: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:34982025-11-12 09:38:05.03CONICET 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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score 13.25334

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