Figure 2.

Pedigree of a Finnish family with USH3, segregating a paternal Fin_major mutation (maj)—c.300T→G—and a maternal Fin_minor mutation (min)—c.131T→A. Alleles at seven microsatellite markers, two SNPs, and USH3 are shown; wt = wild type. The chromosomes assumed to carry the disease allele are in boldface type. The father carries a conserved ancestral haplotype, whereas the mother’s disease-associated haplotype shares alleles at the RSNP2–D3S1594 segment only. A recombination in the maternal chromosome of individual II-1 excludes the segment RSNP2–D3S1279 as the site of the USH3 mutation. At the bottom is the result of an SSCP analysis used in the detection of the Fin_minor mutation. A mobility shift caused by the mutation was detected in individuals I-2, II-2, and II-4.