Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients.

ABSTRACT: The Fabry disease is caused by mutations in the gene (GLA) that encodes the enzyme α-galactosidase A (α-Gal A). More than 500 pathologic variants of GLA have already been described, most of them are family-specific. In southern Brazil, a frequent single-base deletion (GLA 30delG) was identified among four families that do not recognize any common ancestral. In order to investigate the history of this mutation (investigate the founder effect, estimate the mutation age and the most likely source), six gene-flanking microsatellite markers of the X chromosome on the mutation carriers and their parents, 150 individuals from the same population and 300 individuals that compose the Brazilian parental populations (Europeans, Africans and Native Americans) were genotyped. A com

SUBMITTER: de Alencar DO 

PROVIDER: S-EPMC5121364 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature