Figure 2.

Haplotype analysis (a) and segregation of the mutation (b) in the family 78. (a) Filled symbols indicate affected individuals, whereas empty symbols indicate unaffected. Symbols with · represent an asymptomatic gene carrier. Only disease haplotypes shared by affected individuals in both families are boxed. Microsatellite markers and their order are described in Materials and Methods. (b) Allele-specific PCR where a band of 385 bp indicates the mutant allele and a band of 101 bp indicates presence of the internal PCR control, as a result of wild-type and mutant alleles amplification.