Genetic recombination events which position the Friedreich ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q

Journal Article · Fri Jan 01 04:00:00 EST 1993 · American Journal of Human Genetics; (United States)

OSTI ID:6596576

Chamberlain, S; Shaw, J; Wilkes, D; Carvajal, J; Hillerman, R; Doudney, K; Williamson, R ^[1]; Farrall, M ^[2]; Harding, A E ^[3]; Sirugo, G; Fujita, R; Koenig, M; Mandel, J L ^[4]; Palau, F; Monros, E; Vilchez, J; Prieto, F ^[5]; Richter, A; Vanasse, M; Melancon, S ^[6] ; Cocozza, S; Cavalcanti, F; Pianese, L; Filla, A ^[7]; Redolfi, E; DiDonato, S; Pandolfo, M ^[8]

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1. Saint Mary's Hospital Medical School, London (United Kingdom)
2. Royal Postgraduate Medical School, London (United Kingdom)
3. Inst. of Neurology, London (United Kingdom)
4. Institut de Chimie Biologique, Strasbourg (France)
5. Hospital La Fe, Valencia (Spain)
6. Hopital Sainte Justine, Montreal, Quebec (Canada)
7. Universita di Napoli, Naples (Italy)
8. Instituto Nazionale Neurologico Carlo Besta, Milan (Italy)

The absence of recombination between the mutation causing Friedreich ataxia and the two loci which originally assigned the disease locus to chromosome 9 has slowed attempts to isolate and characterize the genetic defect underlying this neurodegenerative disorder. A proximity of less than 1 cM to the linkage group has been proved by the generation of high maximal lod score (Z) to each of the two tightly linked markers D9S15 (Z = 96.69; recombination fraction [[theta]] = .01) and D9S5 (Z = 98.22; [theta] = .01). The authors report here recombination events which indicate that the FRDA locus is located centromeric to the D9S15/D9S5 linkage group, with the most probable order being cen-FRDA-D9S5-D9S15-qter. However, orientation of the markers with respect to the centromere, critical to the positional cloning strategy, remains to be resolved definitively. 30 refs., 1 fig., 3 tabs.

• OSTI ID: 6596576
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 52:1; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
ANIMAL TISSUES
BODY
CHROMOSOMES
CLONING
DISEASES
GENE MUTATIONS
GENETIC MAPPING
HUMAN CHROMOSOMES
MAPPING
MUTATIONS
NERVE TISSUE
NERVOUS SYSTEM DISEASES
ORIENTATION
RECOMBINATION
TISSUES