The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of ∼3 cM on chromosome 14q24.3-q32.2

摘要: SCA3, the gene for spinal cerebellar ataxia 3, was recently mapped to a 15-cM interval between D14S67 and D14S81 on chromosome 14q, by linkage analysis in two families of French ancestry. The SCA3 candidate region has now been refined with four new microsatellite markers (D14S256, D14S291, D14S280, AFM343vf1) same families, which 19 additional individuals were genotyped, third family. Combined two-point analyses show that markers, D14S280 AFM343vf1, are tightly linked locus, maximal lod scores, at recombination fraction, (θ)=.00, 7.05 13.70, respectively. multipoint recombinant haplotype localize locus 3-cM flanked D14S291 D14S81. allele segregates disease three kindreds. This is frequent population, however, disequilibrium not clearly established. remains within 29-cM 14q24.3-q32.2 containing Machado-Joseph disease, clinically related phenotype determined but it cannot yet be concluded both diseases result from alterations