Sequence of the

ABC7 gene mutation in XLSA/A and confirmation of the presence of the mutation in family members. (A) Normal female control. The bases are distinguished by heavy solid lines, G; light solid lines, A; dashed lines, T; and dotted lines, C. (B) Proband II-1. (C) Heterozygous mother of the proband. (D) Restriction analysis for confirmation of the exon 10 mutation. The Std lane contains a 100-bp increment ladder, with the brighter band 500 bp. The presence of the G1305A mutation was assayed by restriction analysis withBsmAI, which digests only the normal allele. Thus, in the absence of the mutation, the 501-bp PCR product is cleaved into fragments of 330 and 171 bp.