Abstract: To analyze the value of polymerase chain reaction and single strand conformation polymorphism gel analysis in screening of Anderson Fabry disease. Methods: Specimens of peripheral blood were collected from 52 Chinese patients who had been diagnosed as hypertrophic cardiomyopathy. Single strand conformation polymorphism gel analysis of the polymerase chain reaction amplified products was conducted to search for mutations in the seven exons of GLA gene. The activity of αgalactosidase A was measured, and the relatives of patients with Anderson Fabry disease were screened in the same way. Results： A novel mutation was identified in the first exon of one patient, a missense mutation (G→A) at nucleotide 1170. His low αgalactosidase A activity confirmed the diagnosis of Anderson Fabry disease. The mutation caused changes of 5′ untranslated region in mRNA and affected the activity of αgalactosidase A through hindering the translation of mRNA. Conclusion： PCRSSCP can be used as a sensitive screening strategy for Anderson Fabry disease.

Key words: Fabry disease, Polymerase chain reaction, Polymorphism, singlestranded conformationalAnderson Fabry