Figure 3.

Mutation of OFD1 in family 10. The DNA-sequence fluorogram of the patient’s DNA for exon 11 displays eight double peaks that result from the presence of both the wild-type and the mutant alleles (top). After the PCR product was cloned, the wild-type allele (bottom) and the mutant allele (middle) were analyzed separately. The corresponding amino acid sequence is shown above the nucleotide sequence; the interchange of nine nucleotides results in a change of the three amino acids shown in boldface type.