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

Journal Article · Tue Dec 01 04:00:00 EST 1992 · American Journal of Human Genetics; (United States)

OSTI ID:6717438

Belal, S; Ben Hamida, C; Hentati, F; Ben Hamida, M ^[1]; Panayides, K; Ioannou, P; MIddleton, L T ^[2]; Sirugo, G; Koenig, S; Mandel, J L ^[3]; Beckmann, J ^[4]

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1. Institut National de Neurologie, Tunis (Tunisia)
2. Cyprus Inst. of Neurology and Genetics, Nicosia (Cyprus)
3. LGME-CNRS, Strasbourg (France)
4. Centre d'Etudes du Polymorphisme Humain, Paris (France)

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. The authors 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 Freidreich ataxia gene and which should orient the search in the D9S5 region. 16 refs., 1 fig., 1 tab.

• OSTI ID: 6717438
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 51:6; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
CHROMOSOMES
CLONING
DISEASES
DNA
GENETIC MAPPING
HUMAN CHROMOSOMES
MAPPING
NERVOUS SYSTEM DISEASES
NUCLEIC ACIDS
ORGANIC COMPOUNDS
ORIGIN
RECOMBINATION