Demonstration of a mutation in codon 23 by means of oligonucleotides after PCR

This pedigree (1) with autosomal dominant inherited
retinitis pigmentosa due to mutation in
codon 23 includes 13 affected individuals in
three generations (affected females, black
circles; affected males, black squares). Using
polymerase chain reaction (PCR) (see p. 166),
Dryja et al. (1990) demonstrated the mutation
in amplified fragments of exon 1 (2). The normal
oligonucleotide corresponds to the normal
sequence between codons 26 and 20. The mutant
sequence of the oligomere RP contains the
mutant sequence CAC. All affected individuals
gave a hybridization signal