par Chamberlain, S;Farrall, Martin;Shaw, Robert ;Wilkes, D;Carvajal, J;Hillerman, R;Doudney, K;Harding, A E;Williamson, Ritchie;Sirugo, G
Référence American journal of human genetics, 52, 1, page (99-109)
Publication Publié, 1993-01
Référence American journal of human genetics, 52, 1, page (99-109)
Publication Publié, 1993-01
Article révisé par les pairs
Résumé : | 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). We 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. |