Article
Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat.
Human molecular genetics - 1 Jul 1996
Igarashi S, Takiyama Y, Cancel G, Rogaeva E A, Sasaki H, Wakisaka A, Zhou Y X, Takano H, Endo K, Sanpei K, Oyake M, Tanaka H, Stevanin G, Abbas N, Dürr A, Rogaev E I, Sherrington R, Tsuda T, Ikeda M, Cassa E, Nishizawa M, Benomar A, Julien J, Weissenbach J, Wang G X, Agid Y, St George-Hyslop P H, Brice A, Tsuji S
Abstract excerpt
Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder caused by unstable expansion of a CAG repeat in the MJD1 gene at 14q32.1. To identify elements affecting the intergenerational instability of the CAG repeat, we investigated whether the CGG/GGG polymorphism at the 3' end of the CAG repeat affects intergenerational instability of the CAG repeat. The [expanded (CAG)n-CGG]/[normal...
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