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

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 haplotyp

SUBMITTER: Cuadrado-Corrales N 

PROVIDER: S-EPMC2957067 | biostudies-literature | 2010 Sep

REPOSITORIES: biostudies-literature