Expression of ARSA in NT lymphoblastoid cells. (a and b) Partial maps of the genomic region of the ARSA gene harboring the BsrI polymorphism. Boxes represent exons; lines represent introns. Arrows point to BsrI restriction sites. Genomic PCR with primers 11 + 12 or with primers 14 + 10 and subsequent digestion with BsrI produces bands of sizes depicted in the figure (in base pairs). (c) Partial cDNA map of the ARSA gene region harboring the polymorphic BsrI site. RT-PCR with primers 10 + 14 and digestion with BsrI produces bands of sizes depicted in base pairs. (d) Results of PCR of NT DNA with primers 11 and 12, separated on an agarose gel. Lanes: 1, 1-kb ladder (GIBCO/BRL); 2, undigested PCR product; 3, PCR product digested with BsrI. The appearance of bands of sizes 823, 492, and 331 bp indicates that one allele contains a BsrI site and one does not. (e) Products of RT-PCR and PCR of NT cDNA and genomic DNA by using primers 10 and 14, separated on a MetaPhor gel. The appearance of both 269- and 195-bp fragments in the cut RT-PCR product indicates that both alleles are expressed.