Fig. 4
From: Mutation Detection in Machado-Joseph Disease Using Repeat Expansion Detection
Autoradiograph showing the detection of two different RED products in siblings of a MJD/SCA3 family
In the unaffected individual in Lane 3 a ladder of RED products of even intensity can be seen, indicating that this represents a single expansion. In the affected individual in Lane 1, an increased intensity of the 210-bp band compared with the longer products in the ladder is seen. This individual is therefore scored as having both a 210-bp RED product (segregating with MJD/SCA3) and a 420-bp product (with no apparent phenotype). The two alleles most likely represent independent loci in the genome. The lowest band in each lane represents 90 bp and each additional band represents an additional 30 bp. Stars denote affected individuals. Pedigree information was excluded to prevent identification.