The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of {approximately} 3 cM on chromosome 14q24.3-q32.2
Journal Article
·
· American Journal of Human Genetics
OSTI ID:70383
- Hopital de la Salpetriere, Paris (France)
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 by linkage analysis with four new microsatellite markers (D14S256, D14S291, D14S280, and AFM343vf1) in the same two families, in which 19 additional individuals were genotyped, and in a third French family. Combined two-point linkage analyses show that the new markers, D14S280 and AFM343vf1, are tightly linked to the SCA3 locus, with maximal lod scores, at recombination fraction, ({theta}) = .00, of 7.05 and 13.70, respectively. Combined multipoint and recombinant haplotype analyses localize the SCA3 locus to a 3-cM interval flanked by D14S291 and D14S81. The same allele for D14S280 segregates with the disease locus in the three kindreds. This allele is frequent in the French population, however, and linkage disequilibrium is not clearly established. The SCA3 locus remains within the 29-cM region on 14q24.3-q32.2 containing the gene for the Machado-Joseph disease, which is clinically related to the phenotype determined by SCA3, but it cannot yet be concluded that both diseases result from alterations of the same gene. 30 refs., 3 figs., 3 tabs.
- OSTI ID:
- 70383
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 1 Vol. 56; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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Fri Dec 31 23:00:00 EST 1993
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OSTI ID:5053470
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· American Journal of Human Genetics
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OSTI ID:209920
Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14
Journal Article
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Fri Jul 01 00:00:00 EDT 1994
· American Journal of Human Genetics; (United States)
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OSTI ID:6903425