Figure 5.

Detection of three different mutations segregating in families with USH3. A, Sequence analysis of a genomic PCR fragment comprising exon 3 in a normal control, in a patient with USH3 who is homozygous for the ancestral Fin_major mutation—c.300T→G (resulting in Y100X)—in a heterozygous carrier, and in a compound heterozygous patient (Fin_major/Fin_minor). Positions of mutated nucleotides are indicated by arrows and asterisks. B, Finnish mutation Fin_minor—c.131T→A (resulting in M44K) in exon 2: sequence chromatograms of a control and of a compound-heterozygous patient with USH3 (Fin_major/Fin_minor). C, Sequence chromatograms of a control, of a homozygous patient, and of a heterozygous carrier, representing the Italian mutation—a 3-bp deletion, c.231–233delATT—in exon 3. The deletion results in the substitution of one methionine for isoleucine and leucine. The deleted nucleotides are indicated below the normal control sequence.