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BMC Med Genet. 2010 Sep 29;11:139. doi: 10.1186/1471-2350-11-139.

A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families.

Author information

1
Basic Research Department, Epithelial Biomedicine Division, Regenerative Medicine Unit, CIEMAT, Madrid, Spain.

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.

PMID:
20920254
PMCID:
PMC2957067
DOI:
10.1186/1471-2350-11-139
[Indexed for MEDLINE]
Free PMC Article
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