✍ Scribed by Telenius, Håkan; Kremer, Berry; Goldberg, Y. Paul; Theilmann, Jane; Andrew, Susan E.; Zeisler, Jutta; Adam, Shelin; Greenberg, Cheryl; Ives, Elizabeth J.; Clarke, Lorne A.
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
## Abstract We report on a pair of monozygotic twins belonging to a family segregating Huntington disease (HD). In routine DNA analysis of blood cells, they displayed three alleles of the CAG repeat sequence in the HD gene. Two different cell lines, carrying the normal allele together with either a
An expanded and unstable CAG repeat in the coding region of the MJD1 gene is the mutation responsible for spinocerebellar ataxia 3/Machado-Joseph disease. In order to determine whether there was a higher degree of instability in affected regions, the size of the expanded CAG repeat was analyzed in d
The length of the CAG repeat responsible for Huntington disease has been analysed by two PCR methods in blood and sperm DNA of 13 expansion carriers, two carriers of intermediate alleles, and four normal subjects. The two methods consistently confirmed size heterogeneity, more pronounced in sperm an