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

Journal Article · Mon May 01 04:00:00 EDT 1995 · American Journal of Human Genetics

OSTI ID:75452

Doerflinger, N; Linder, C; Ouahchi, K; Mandel, J L; Koenig, M ^[1]; Gyapay, G; Weissenbach, J ^[2]; Le Paslier, D; Rigault, P; Landrieu, P ^[3]

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1. Centre Hospitalier Universitaire, Strasbourg (France)
2. Genethon, Evry (France)
3. 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, Journal Name: American Journal of Human Genetics Journal Issue: 5 Vol. 56; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOLOGICAL MARKERS
CONTIGS
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 8
NERVOUS SYSTEM DISEASES
PATIENTS
RECESSIVE MUTATIONS
UPTAKE
VITAMIN E