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

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 lin...

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Bibliographic Details
Published in:American journal of human genetics 1992-12, Vol.51 (6), p.1372-1376
Main Authors: BELAL, S, PANAYIDES, K, MIDDLETON, L. T, SIRUGO, G, BEN HAMIDA, C, IOANNOU, P, HENTATI, F, BECKMANN, J, KOENIG, M, MANDEL, J.-L, MONGI BEN HAMIDA
Format: Article
Language:English
Subjects:
Adolescent
Adult
BASIC BIOLOGICAL SCIENCES
Biological and medical sciences
Chromosome Mapping
CHROMOSOMES
Chromosomes, Human, Pair 9
CLONING
Consanguinity
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
DISEASES
DNA
Female
Friedreich ataxia
Friedreich Ataxia - genetics
Genetic Linkage
GENETIC MAPPING
Haplotypes
HUMAN CHROMOSOMES
Humans
Lod Score
Male
man
MAPPING
markers
Medical sciences
NERVOUS SYSTEM DISEASES
Neurology
NUCLEIC ACIDS
ORGANIC COMPOUNDS 550400 > Genetics
ORIGIN
Original
Pedigree
RECOMBINATION
Recombination, Genetic
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Summary: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.
ISSN:0002-9297
1537-6605