Fig. 3
From: Mutation Detection in Machado-Joseph Disease Using Repeat Expansion Detection
Pedigree from an uncharacterized spinocerebellar ataxia family where cosegregation of a RED product and disease lead to the diagnosis of Machado-Joseph disease
RED product sizes (bp) are indicated in bold characters above and repeat copy number of expansions detected by PCR are indicated below in italics. Two PCR alleles in the normal range are designated N. Individual A is clinically unaffected but show both RED and PCR expansions. Individuals marked B show RED products in the MJD/SCA3 range, but are unaffected and lack PCR expansions. Individuals have been scrambled and marked as unisex to prevent identification.