原创力文档a prevalent mutation with founder effect in spanish recessive dystrophic epidermolysis bullosa families普遍的突变与奠基者效应在西班牙隐性瘠薄表皮松解大疱的家庭.pdfVIP
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a prevalent mutation with founder effect in spanish recessive dystrophic epidermolysis bullosa families普遍的突变与奠基者效应在西班牙隐性瘠薄表皮松解大疱的家庭
Cuadrado-Corrales et al. BMC Medical Genetics 2010, 11:139
/1471-2350/11/139
RESEARCH ARTICLE Open Access
A prevalent mutation with founder effect in
Spanish Recessive Dystrophic Epidermolysis
Bullosa families
1,2 1,2 1,2 1,2 1
Natividad Cuadrado-Corrales , Carolina Sánchez-Jimeno , Marta García , María-José Escámez , Nuria Illera ,
Ángela Hernández-Martín3, María-José Trujillo-Tiebas4,5, Carmen Ayuso4,5, Marcela Del Rio1,2*
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.
Background reported by our group [5]. Accounting for 46.3% of alleles
Dystrophic Epidermolysis Bullos
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