Effect of single‐nucleotide polymorphisms of the 5′ untranslated region of the human α‐galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians

Summary Background: The α‐galactosidase gene ( GLA ) has three single‐nucleotide polymorphisms in the 5′ untranslated region of exon 1, respectively g.1150G>A, g.1168G>A, g.1170C>T. The g.1150A allele is associated with increased plasma α‐galactosidase (α‐Gal) activity in hemizygotes, while the others are regarded as biologically neutral. The primary goal of this investigation was to test the hypothesis, raised by a clinical observation...