RT Journal Article
T1 A prevalent mutation with founder effect in Spanish recessive dystrophic epidermolysis bullosa families
A1 Cuadrado-Corrales, Natividad
A1 Sanchez Jimeno, Carolina
A1 García Díez, Marta
A1 Escámez Toledano, María José
A1 Illera Esteban, Nuria
A1 Hernandez Martin, Maria Angela
A1 Trujillo-Tiebas, Maria Jose
A1 Ayuso, Carmen
A1 Río Nechaevsky, Marcela del
AB 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.
PB BMC
SN 1471-2350
YR 2010
FD 2010-09-29
LK https://hdl.handle.net/10016/33517
UL https://hdl.handle.net/10016/33517
LA eng
NO 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).
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RD 1 sept. 2024