Résumé
<p><b>OBJECTIVE</b>To observe the disease-causing GLA gene mutations in Chinese patients with Fabry disease and the correlation between the genotype and phenotype.</p><p><b>METHODS</b>DNA from 2 Chinese patients with Fabry disease and their relatives were collected. The seven exons and nonjunctional regions of GLA gene were amplified with polymerase chain reaction and the products were sequenced. The correlation between the genotype and phenotype was analyzed.</p><p><b>RESULTS</b>Two mutations, G1168A and G1170A, located in 5' untranslated regions (5'UTR) were identified in the two probands and the two mutations were absent in normal controls. Three patients with the same genotype were found in the pedigree with G1168A mutation and there was no gene mutation carrier in the pedigree with G1170A mutation. Symptoms of the disease are less in female patients than that in male patients.</p><p><b>CONCLUSION</b>GLA gene mutation in 5'UTR may also be involved in the disease process of patients with Fabry disease and the phenotype is partly affected by gender.</p>