Multiple local and recent founder effects of TGM1 in Spanish families.

ABSTRACT:

Background

Mutations in the TGM1 gene encoding transglutaminase 1 are a major cause of autosomal recessive congenital ichthyosis. In the Galician (NW Spain) population, three mutations, c.2278C>T, c.1223_1227delACAC and c.984+1G>A, were observed at high frequency, representing ~46%, ~21% and ~13% of all TGM1 gene mutations, respectively. Moreover, these mutations were reported only once outside of Galicia, pointing to the existence of historical episodes of local severe genetic drift in this region.

Methodology/principal findings

In order to determine whether these mutations were inherited from a common ancestor in the Galician population, and to estimate the number of generations since their initial appearance, we carried out a haplotype-based analysis by way of genotyping

SUBMITTER: Fachal L 

PROVIDER: S-EPMC3325222 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature