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Am J Hum Genet. 1992 Dec;51(6):1372-6.

Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus.

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  • 1Laboratoire de Neurobiologie Mol├ęculaire et de Neuropathologie, Institut National de Neurologie, Tunis.

Abstract

Friedreich ataxia is a neurodegenerative disorder with autosomal recessive inheritance. Precise linkage mapping of the Friedreich ataxia locus (FRDA) in 9q13-q21 should lead to the isolation of the defective gene by positional cloning. The two closest DNA markers, D9S5 and D9S15, show very tight linkage to FRDA, making difficult the ordering of the three loci. We present a linkage study of three large Friedreich ataxia families of Tunisian origin, with several multiallelic markers around D9S5 and D9S15. Haplotype data were used to investigate genetic homogeneity of the disease in these geographically related families. A meiotic recombination was found in a nonaffected individual, which excludes a 150-kb segment, including D9S15, as a possible location for the Friedreich ataxia gene and which should orient the search in the D9S5 region.

PMID:
1463017
PMCID:
PMC1682916
[PubMed - indexed for MEDLINE]
Free PMC Article
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