Figure 5.

Overexposed manual sequencing autoradiographs for six families, with the percentage of the mutated alleles (obtained by allele-specific PCR ) given in parentheses. From each family, the autoradiograph of the patient (P), a healthy control individual (K), and the mosaic individual (M) are shown. Black arrows indicate the mutated alleles, and white arrows indicate and the healthy alleles. Autoradiographs were exposed for 3–4 d. Although a strong signal for the mutated allele is found in family RHP1, only faint signals are shown in families JO7 and JO10. No signals could be seen in families LA28, JO1, or LA15, which indicated a lower detection limit of 5% of the mutated allele when manual sequencing was performed.