Article
Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease.
Human molecular genetics - 1 Jul 1995
Takiyama Y, Igarashi S, Rogaeva E A, Endo K, Rogaev E I, Tanaka H, Sherrington R, Sanpei K, Liang Y, Saito M
Abstract excerpt
The size of the (CAG)n repeat array in the 3' end of the MJD1 gene and the haplotype at a series of microsatellite markers surrounding the MJD1 gene were examined in a large cohort of Japanese and Caucasian subjects affected with Machado-Joseph disease (MJD). Our data provide five novel observations. First, MJD is associated with expansion fo the array from the normal range of 14-37 repeats to 68-84 repeats in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.