Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families
- Centre Hospitalier Universitaire, Strasbourg (France)
- Genethon, Evry (France)
- Hopital Necker-Enfants Malades, Paris (France)
Ataxia with vitamin E deficiency (AVED) is an autosomal recessive disease characterized clinically by neurological symptoms with often striking resemblance to those of Friedreich ataxia. This disorder has been reported previously as familial isolated vitamin E deficiency. We have mapped recently the AVED locus to a 5-cM confidence interval on chromosome 8q by homozygosity mapping in six Mediterranean families. We have now analyzed six new and two previously described families and demonstrate genetic homgeneity despite important clinical variability and wide geographic origins. Analysis of nine new tightly linked microsatellite markers, including four characterized in this study, revealed a predominant but not unique mutation in northern African populations, where this condition is more frequent. Haplotype analysis but also classical recombinations allowed us to refine the AVED position to a 1-cM interval. A YAC contig over this interval was constructed from marker STSs and YAC fingerprint data, in order to facilitate the search of the AVED gene. 28 refs., 2 figs., 4 tabs.
- OSTI ID:
- 75452
- Journal Information:
- American Journal of Human Genetics, Vol. 56, Issue 5; Other Information: PBD: May 1995
- Country of Publication:
- United States
- Language:
- English
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