Haplotype Study in Argentinean Variegate Porphyria Patients

Autores
Granata, Bárbara Xoana; Parera, Victoria Estela; Batlle, Alcira María del C.; Rossetti, Maria Victoria
Año de publicación
2016
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Background/Aims: The porphyrias are genetically heterogeneous diseases, and each mutation is exclusive to one or two families. Among the mutations responsible for variegate porphyria in our country, c.1042-1043insT stands out, since it was described only in Argentina and is present in about 40% of genetically diagnosed families. Thus, we hypothesized the possible existence of a common ancestor for the mutation in our population. Methods: We conducted a study based on microsatellite (short tandem repeats) haplotypes. Results: We found a common haplotype in all of the patients carrying the common mutation. The age of the mutation was estimated to be about 375 years. Conclusion: There is a recent founder effect in our population for this particular genetic alteration in variegate porphyria.
Fil: Granata, Bárbara Xoana. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Parera, Victoria Estela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Batlle, Alcira María del C.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Rossetti, Maria Victoria. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Materia
Founder Effect
Haplotype Analysis
Short Tandem Repeat
Variegate Porphyria
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:11336/60400
Acceder
id CONICETDig_7b2f522a701cb0d8622a770203799624
oai_identifier_str oai:ri.conicet.gov.ar:11336/60400
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Haplotype Study in Argentinean Variegate Porphyria PatientsGranata, Bárbara XoanaParera, Victoria EstelaBatlle, Alcira María del C.Rossetti, Maria VictoriaFounder EffectHaplotype AnalysisShort Tandem RepeatVariegate Porphyriahttps://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1Background/Aims: The porphyrias are genetically heterogeneous diseases, and each mutation is exclusive to one or two families. Among the mutations responsible for variegate porphyria in our country, c.1042-1043insT stands out, since it was described only in Argentina and is present in about 40% of genetically diagnosed families. Thus, we hypothesized the possible existence of a common ancestor for the mutation in our population. Methods: We conducted a study based on microsatellite (short tandem repeats) haplotypes. Results: We found a common haplotype in all of the patients carrying the common mutation. The age of the mutation was estimated to be about 375 years. Conclusion: There is a recent founder effect in our population for this particular genetic alteration in variegate porphyria.Fil: Granata, Bárbara Xoana. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; ArgentinaFil: Parera, Victoria Estela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; ArgentinaFil: Batlle, Alcira María del C.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; ArgentinaFil: Rossetti, Maria Victoria. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; ArgentinaKarger2016-07info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/60400Granata, Bárbara Xoana; Parera, Victoria Estela; Batlle, Alcira María del C.; Rossetti, Maria Victoria; Haplotype Study in Argentinean Variegate Porphyria Patients; Karger; Human Heredity; 80; 3; 7-2016; 139-1430001-5652CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1159/000445749info:eu-repo/semantics/altIdentifier/url/https://www.karger.com/Article/Abstract/445749info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-22T11:21:46Zoai:ri.conicet.gov.ar:11336/60400instacron: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:34982025-10-22 11:21:47.064CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Haplotype Study in Argentinean Variegate Porphyria Patients
title Haplotype Study in Argentinean Variegate Porphyria Patients
spellingShingle Haplotype Study in Argentinean Variegate Porphyria Patients
Granata, Bárbara Xoana
Founder Effect
Haplotype Analysis
Short Tandem Repeat
Variegate Porphyria
title_short Haplotype Study in Argentinean Variegate Porphyria Patients
title_full Haplotype Study in Argentinean Variegate Porphyria Patients
title_fullStr Haplotype Study in Argentinean Variegate Porphyria Patients
title_full_unstemmed Haplotype Study in Argentinean Variegate Porphyria Patients
title_sort Haplotype Study in Argentinean Variegate Porphyria Patients
dc.creator.none.fl_str_mv Granata, Bárbara Xoana
Parera, Victoria Estela
Batlle, Alcira María del C.
Rossetti, Maria Victoria
author Granata, Bárbara Xoana
author_facet Granata, Bárbara Xoana
Parera, Victoria Estela
Batlle, Alcira María del C.
Rossetti, Maria Victoria
author_role author
author2 Parera, Victoria Estela
Batlle, Alcira María del C.
Rossetti, Maria Victoria
author2_role author
author
author
dc.subject.none.fl_str_mv Founder Effect
Haplotype Analysis
Short Tandem Repeat
Variegate Porphyria
topic Founder Effect
Haplotype Analysis
Short Tandem Repeat
Variegate Porphyria
purl_subject.fl_str_mv https://purl.org/becyt/ford/1.6
https://purl.org/becyt/ford/1
dc.description.none.fl_txt_mv Background/Aims: The porphyrias are genetically heterogeneous diseases, and each mutation is exclusive to one or two families. Among the mutations responsible for variegate porphyria in our country, c.1042-1043insT stands out, since it was described only in Argentina and is present in about 40% of genetically diagnosed families. Thus, we hypothesized the possible existence of a common ancestor for the mutation in our population. Methods: We conducted a study based on microsatellite (short tandem repeats) haplotypes. Results: We found a common haplotype in all of the patients carrying the common mutation. The age of the mutation was estimated to be about 375 years. Conclusion: There is a recent founder effect in our population for this particular genetic alteration in variegate porphyria.
Fil: Granata, Bárbara Xoana. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Parera, Victoria Estela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Batlle, Alcira María del C.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Rossetti, Maria Victoria. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
description Background/Aims: The porphyrias are genetically heterogeneous diseases, and each mutation is exclusive to one or two families. Among the mutations responsible for variegate porphyria in our country, c.1042-1043insT stands out, since it was described only in Argentina and is present in about 40% of genetically diagnosed families. Thus, we hypothesized the possible existence of a common ancestor for the mutation in our population. Methods: We conducted a study based on microsatellite (short tandem repeats) haplotypes. Results: We found a common haplotype in all of the patients carrying the common mutation. The age of the mutation was estimated to be about 375 years. Conclusion: There is a recent founder effect in our population for this particular genetic alteration in variegate porphyria.
publishDate 2016
dc.date.none.fl_str_mv 2016-07
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/11336/60400
Granata, Bárbara Xoana; Parera, Victoria Estela; Batlle, Alcira María del C.; Rossetti, Maria Victoria; Haplotype Study in Argentinean Variegate Porphyria Patients; Karger; Human Heredity; 80; 3; 7-2016; 139-143
0001-5652
CONICET Digital
CONICET
url http://hdl.handle.net/11336/60400
identifier_str_mv Granata, Bárbara Xoana; Parera, Victoria Estela; Batlle, Alcira María del C.; Rossetti, Maria Victoria; Haplotype Study in Argentinean Variegate Porphyria Patients; Karger; Human Heredity; 80; 3; 7-2016; 139-143
0001-5652
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.1159/000445749
info:eu-repo/semantics/altIdentifier/url/https://www.karger.com/Article/Abstract/445749
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
dc.publisher.none.fl_str_mv Karger
publisher.none.fl_str_mv Karger
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
_version_ 1846781726001463296
score 13.120347

Publicaciones similares