Linkage studies in three North American SCA pedigrees
Journal Article
·
· American Journal of Human Genetics
OSTI ID:134123
- UMDNJ-Robert Wood Johnson Medical School, New Brunswick, NJ (United States); and others
Three large North American pedigrees with the clinical diagnosis of OPCA were studied for linkage. In family 1, of French Huguenot origin, autopsies showed spinopontine atrophy in one case and OPCA in the other. For family 1, SCA1 was excluded; SCA2 was not supported but not excluded. For D14S45, Zmax=4.99 at theta=5 cM. For D14S67, Zmax=3.20 at theta=10 cM. For family 2, SCA1, but not SCA2 was excluded. For D14S67, Zmax=2.31 at theta=0 cM; for D14S45, Zmax=1.22 at theta=10c M. For the three families for D14S67, Zmax=4.00 at theta=10 cM; for D14S73, Zmax=1.20 at theta=10 cM. For family 3, linkage to chromosome 6, 12, or 14 markers was not supported or excluded. APM analyses gave significance for D14S48, D14S67, D14S68 in family 1 and D14S48, D14S67, D14S68, D14S45 in family 2. SCA in family 1, and most likely family 2, was linked to 14q markers, and possibly the Machado-Joseph disease (MJD) locus. Thus MJD mutations might give the clinical picture of OPCA, and the pathology of OPCA or spinopontine atrophy. The locus for OPCA in family 3 has not been determined, and it cannot be excluded that this represents a new locus.
- OSTI ID:
- 134123
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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