Figure 2

Taq I Southern blots showing patients carrying monomodular alleles. Hybridizations with CYP21 (pC21/3c) and C4 (C4B550) probes are shown. a) Homozygous genotypes for monomodular alleles; b) compound heterozygous genotypes with mono- and bimodular alleles carrying large gene conversion; c) compound heterozygous genotypes with mono- and bimodular alleles carrying pseudogene-derived mutations; d) compound heterozygous genotype with mono- and trimodular alleles carrying pseudogene-derived mutations; e) compound heterozygous genotype with mono- and tetramodular alleles (lane 3); maternal genotype showing compound heterozygosis with mono- and bimodular alleles (lane 2); and paternal genotype with tetramodular and bimodular alleles (lane 1). Numbers below each lane depict patient numbers.