Fig. 1.
Analysis of ADA genotype of patient no. 1 and family. (A) SSCP analysis of genomic exon 5. Lanes 1 and 2, controls; lane 3, patient no. 1. (B) Sequencing gel showing heterozygosity of patient no. 1 for the P126Q mutation in genomic exon 5 DNA. (C) Pedigree of family 1. Arrow indicates patient no. 1 (II-1).