Dot blot hybridization of PCR-amplified genomic fragment spanning exon 7.

PCR products from the propositus, 5 of her family members, and 3 healthy individuals were hybridized with the normal allele-specific oligonucleotide probe (A) or mutant allele-specific oligonucleotide probe (B) as described in “Materials and methods”; 1: three normal controls; 2: three homozygotes from the family (from top to bottom: II.3, II.4, and II.7); 3: three heterozygotes (from top to bottom: III.5, III.9, and III.10).