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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorGarcia Rodríguez, Cecilia
dc.contributor.authorVidal Taboada, José Manuel
dc.contributor.authorSyriani Casagrande, Enrique
dc.contributor.authorSalvadó Figueras, Maria
dc.contributor.authorMorales, Miguel
dc.contributor.authorGamez Carbonell, Josep
dc.date.accessioned2021-04-09T11:01:21Z
dc.date.available2021-04-09T11:01:21Z
dc.date.issued2019-11-08
dc.identifier.citationGarcia C, Vidal-Taboada JM, Syriani E, Salvado M, Morales M, Gamez J. Haplotype Analysis of the First A4V-SOD1 Spanish Family: Two Separate Founders or a Single Common Founder? Front Genet. 2019 Nov 8;10:1109.
dc.identifier.issn1664-8021
dc.identifier.urihttp://hdl.handle.net/11351/5832
dc.descriptionA4V; SOD1; Amyotrophic lateral sclerosis
dc.description.abstractDespite the genetic heterogeneity reported in familial amyotrophic lateral sclerosis (ALS) (fALS), Cu/Zn superoxide-dismutase (SOD1) gene mutations are the second most common cause of the disease, accounting for around 20% of all families (ALS1) and isolated sporadic cases (sALS). At least 186 different mutations in the SOD1 gene have been reported to date. The possibility of a single founder and separate founders have been investigated for D90A (p.D91A) and A4V (p.A5V), the most common mutations worldwide. High-throughput single nucleotide polymorphism genotyping studies have suggested two founders for A4V (one for the Amerindian population and another for the European population) although the possibility that the two populations are descended from a single ancient founder cannot be ruled out. We used 15 genetic variants spanning the human chromosome 21 from the SOD1 gene to the SCAF4 gene, comparing them with the population reference panels, to demonstrate that the first A4V Spanish pedigree shared the genetic background reported in the European population.
dc.language.isoeng
dc.publisherFrontiers Media
dc.relation.ispartofseriesFrontiers in Genetics;10
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScientia
dc.subjectEsclerosi lateral amiotròfica
dc.subjectSuperòxid dismutasa
dc.subject.meshAmyotrophic Lateral Sclerosis
dc.subject.meshSuperoxide Dismutase-1
dc.titleHaplotype Analysis of the First A4V-SOD1 Spanish Family: Two Separate Founders or a Single Common Founder?
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.3389/fgene.2019.01109
dc.subject.decsesclerosis lateral amiotrófica
dc.subject.decssuperóxido dismutasa-1
dc.relation.publishversionhttps://www.frontiersin.org/article/10.3389/fgene.2019.01109/full
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[Garcia C, Vidal-Taboada JM] Unitat Esclerosi Lateral Amiotròfica (ELA), Servei de Neurologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Barcelona, Spain. [Syriani E, Morales M] Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Barcelona, Spain. [Salvado M, Gamez J] Unitat Esclerosi Lateral Amiotròfica (ELA), Servei de Neurologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Barcelona, Spain. Departament de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain
dc.identifier.pmid31781168
dc.identifier.wos000501152400001
dc.relation.projectidinfo:eu-repo/grantAgreement/ES/PE2013-2016/PI16%2F01673
dc.relation.projectidinfo:eu-repo/grantAgreement/ES/PE2017-2020/PI19%2F00593
dc.relation.projectidinfo:eu-repo/grantAgreement/ES/PERIS2016-2020/2017SGR00939
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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