Ataxia with vitamin E deficiency: Refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families

N. Doerflinger, C. Linder, K. Ouahchi, G. Gyapay, J. Weissenbach, D. Le Paslier, P. Rigault, S. Belal, C. B. Hamida, F. Hentati, M. B. Hamida, M. Pandolfo, S. DiDonato, R. Sokol, H. Kayden, P. Landrieu, A. Durr, A. Brice, M. Koenig

Research output: Contribution to journalArticle

Abstract

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 homogeneity 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.

Original languageEnglish
Pages (from-to)1116-1124
Number of pages9
JournalAmerican Journal of Human Genetics
Volume56
Issue number5
Publication statusPublished - 1995

ASJC Scopus subject areas

  • Genetics

Fingerprint Dive into the research topics of 'Ataxia with vitamin E deficiency: Refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families'. Together they form a unique fingerprint.

  • Cite this

    Doerflinger, N., Linder, C., Ouahchi, K., Gyapay, G., Weissenbach, J., Le Paslier, D., Rigault, P., Belal, S., Hamida, C. B., Hentati, F., Hamida, M. B., Pandolfo, M., DiDonato, S., Sokol, R., Kayden, H., Landrieu, P., Durr, A., Brice, A., & Koenig, M. (1995). Ataxia with vitamin E deficiency: Refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families. American Journal of Human Genetics, 56(5), 1116-1124.