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A prevalent mutation with founder effect in Spanish recessive dystrophic epidermolysis bullosa families

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dc.affiliation.dptoUC3M. Departamento de Bioingenieríaes
dc.affiliation.grupoinvUC3M. Grupo de Investigación: Tissue Engineering and Regenerative Medicine (TERMeG)es
dc.contributor.authorCuadrado-Corrales, Natividad
dc.contributor.authorSanchez Jimeno, Carolina
dc.contributor.authorGarcía Díez, Marta
dc.contributor.authorEscámez Toledano, María José
dc.contributor.authorIllera Esteban, Nuria
dc.contributor.authorHernandez Martin, Maria Angela
dc.contributor.authorTrujillo-Tiebas, Maria Jose
dc.contributor.authorAyuso, Carmen
dc.contributor.authorRío Nechaevsky, Marcela del
dc.contributor.funderMinisterio de Ciencia e Innovación (España)es
dc.date.accessioned2021-11-03T09:29:02Z
dc.date.available2021-11-03T09:29:02Z
dc.date.issued2010-09-29
dc.description.abstractBackground: Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a genodermatosis caused by more than 500 different mutations in the COL7A1 gene and characterized by blistering of the skin following a minimal friction or mechanical trauma. The identification of a cluster of RDEB pedigrees carrying the c.6527insC mutation in a specific area raises the question of the origin of this mutation from a common ancestor or as a result of a hotspot mutation. The aim of this study was to investigate the origin of the c.6527insC mutation. Methods: Haplotypes were constructed by genotyping nine single nucleotides polymorphisms (SNPs) throughout the COL7A1 gene. Haplotypes were determined in RDEB patients and control samples, both of Spanish origin. Results: Sixteen different haplotypes were identified in our study. A single haplotype cosegregated with the c.6527insC mutation. Conclusion: Haplotype analysis showed that all alleles carrying the c.6527insC mutation shared the same haplotype cosegregating with this mutation (CCGCTCAAA_6527insC), thus suggesting the presence of a common ancestor.en
dc.description.sponsorshipThis work was supported in part by grants from Spanish Ministry of Science and Innovation (SAF2007-61019 and SAF2010-16976) and INTRA/08/714 from Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER).en
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dc.identifier.bibliographicCitationCuadrado-Corrales, N., Sánchez-Jimeno, C., García, M., Escámez, M. J., Illera, N., Hernández-Martín, N., Trujillo-Tiebas, M. J., Ayuso, C. & del Rio, M. (2010). A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families. BMC Medical Genetics, 11(1), 139.en
dc.identifier.doihttps://doi.org/10.1186/1471-2350-11-139
dc.identifier.issn1471-2350
dc.identifier.publicationfirstpage139
dc.identifier.publicationissue1
dc.identifier.publicationtitleBMC Medical Geneticsen
dc.identifier.publicationvolume11
dc.identifier.urihttps://hdl.handle.net/10016/33517
dc.identifier.uxxiAR/0000012914
dc.language.isoeng
dc.publisherBMC
dc.relation.projectIDGobierno de España. SAF2007-61019es
dc.relation.projectIDGobierno de España. SAF2010-16976es
dc.rights© 2010 Cuadrado-Corrales et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.en
dc.rightsAtribución 3.0 España*
dc.rights.accessRightsopen accessen
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/es/*
dc.subject.ecienciaBiología y Biomedicinaes
dc.subject.otherIberian Peninsulaen
dc.subject.otherFounder effecten
dc.subject.otherPathogenic mutationen
dc.subject.otherSpanish populationen
dc.subject.otherEpepidermolysis bullosaen
dc.titleA prevalent mutation with founder effect in Spanish recessive dystrophic epidermolysis bullosa familiesen
dc.typeresearch article*
dc.type.hasVersionVoR*
dspace.entity.typePublication
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