국내 Fabry disease 환자의 a-Galatosidase A 유전자 돌연변이 검색 = Mutation Screening in a-Galatosidase A Gene of Korean Patients with Fabry Disease

다국어 초록 (Multilingual Abstract)

Fabry disease(FD) is an X-linked recessive lysosomal disorder caused by a deficiency of a-galactosidase A(a-Gal A), localized at Xq22. Besides onset of pain and paresthesias in the extremities, FD was diagnosed by absence of a-Gal A activity. In this experiment the a-Gal A activity of Korean FD patients was spectrometrically analysed using an artificial substate, 4-Mrthylumbellifery1-a-D-galactoside. As expected, no a-Gal A activity was detected in lymphocytes and lymphoblastoid cells from FD patients. To screen the mutation in their a-Gal A genes, we performed single strand conformation polymorphism(SSCP) and PCR-direct sequencing form seven a-Gal A exons. The nonsense mutation was identified both in classically affected hemyzygotes and a heterozygote. They showed the C to T transition at nucleotide number 11,002, resulting in a arginine-to-stop(R342X). This result will be applicable for pre- and neonatal detection of FD and to define the genotype/phenotype correlation.