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

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dc.contributor.author Cuadrado-Corrales, Natividad
dc.contributor.author Sanchez Jimeno, Carolina
dc.contributor.author García Díez, Marta
dc.contributor.author Escámez Toledano, María José
dc.contributor.author Illera Esteban, Nuria
dc.contributor.author Hernandez Martin, Maria Angela
dc.contributor.author Trujillo-Tiebas, Maria Jose
dc.contributor.author Ayuso, Carmen
dc.contributor.author Río Nechaevsky, Marcela del
dc.date.accessioned 2021-11-03T09:29:02Z
dc.date.available 2021-11-03T09:29:02Z
dc.date.issued 2010-09-29
dc.identifier.bibliographicCitation Cuadrado-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.
dc.identifier.issn 1471-2350
dc.identifier.uri http://hdl.handle.net/10016/33517
dc.description.abstract Background: 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.
dc.description.sponsorship This 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).
dc.format.extent 7
dc.language.iso eng
dc.publisher BMC
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.
dc.rights Atribución 3.0 España
dc.rights.uri http://creativecommons.org/licenses/by/3.0/es/
dc.subject.other Iberian Peninsula
dc.subject.other Founder effect
dc.subject.other Pathogenic mutation
dc.subject.other Spanish population
dc.subject.other Epepidermolysis bullosa
dc.title A prevalent mutation with founder effect in Spanish recessive dystrophic epidermolysis bullosa families
dc.type article
dc.subject.eciencia Biología y Biomedicina
dc.identifier.doi https://doi.org/10.1186/1471-2350-11-139
dc.rights.accessRights openAccess
dc.relation.projectID Gobierno de España. SAF2007-61019
dc.relation.projectID Gobierno de España. SAF2010-16976
dc.type.version publishedVersion
dc.identifier.publicationfirstpage 139
dc.identifier.publicationissue 1
dc.identifier.publicationtitle BMC Medical Genetics
dc.identifier.publicationvolume 11
dc.identifier.uxxi AR/0000012914
dc.contributor.funder Ministerio de Ciencia e Innovación (España)
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