Genetic recombination events which position the Friedreich ataxia locus proximal to the D9SI5/D9S5 linkage group on chromosome 9q

Susan Chamberlain, Martin Farrall, Jacqui Shaw, David Wilkes, Jaime Carvajal, Renate Hillerman, Kit Doudney, A. E. Harding, Robert Williamson, Giorgio Sirugo, Ricardo Fujita, Michel Koenig, Jean Louis Mandel, Francisco Palau, Eugenia Monros, Juan Vilchez, Felix Prieto, Andrea Richter, Michel Vanasse, Serge MelanconSergio Cocozza, Elena Redolfi, Francesca Cavalcanti, Luigi Pianese, Allesandro Filla, Stefano DiDonato, Massimo Pandolfo

Research output: Contribution to journalArticle

30 Citations (Scopus)

Abstract

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 [θ] = .01) and D9S5 (Z = 98.22; θ = .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.

Original languageEnglish
Pages (from-to)99-109
Number of pages11
JournalAmerican Journal of Human Genetics
Volume52
Issue number1
Publication statusPublished - Jan 1993

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Friedreich Ataxia
Genetic Recombination
Chromosomes
Lod Score
Chromosomes, Human, Pair 9
Centromere
Neurodegenerative Diseases
Organism Cloning
Mutation

ASJC Scopus subject areas

  • Genetics

Cite this

Chamberlain, S., Farrall, M., Shaw, J., Wilkes, D., Carvajal, J., Hillerman, R., ... Pandolfo, M. (1993). Genetic recombination events which position the Friedreich ataxia locus proximal to the D9SI5/D9S5 linkage group on chromosome 9q. American Journal of Human Genetics, 52(1), 99-109.

Genetic recombination events which position the Friedreich ataxia locus proximal to the D9SI5/D9S5 linkage group on chromosome 9q. / Chamberlain, Susan; Farrall, Martin; Shaw, Jacqui; Wilkes, David; Carvajal, Jaime; Hillerman, Renate; Doudney, Kit; Harding, A. E.; Williamson, Robert; Sirugo, Giorgio; Fujita, Ricardo; Koenig, Michel; Mandel, Jean Louis; Palau, Francisco; Monros, Eugenia; Vilchez, Juan; Prieto, Felix; Richter, Andrea; Vanasse, Michel; Melancon, Serge; Cocozza, Sergio; Redolfi, Elena; Cavalcanti, Francesca; Pianese, Luigi; Filla, Allesandro; DiDonato, Stefano; Pandolfo, Massimo.

In: American Journal of Human Genetics, Vol. 52, No. 1, 01.1993, p. 99-109.

Research output: Contribution to journalArticle

Chamberlain, S, Farrall, M, Shaw, J, Wilkes, D, Carvajal, J, Hillerman, R, Doudney, K, Harding, AE, Williamson, R, Sirugo, G, Fujita, R, Koenig, M, Mandel, JL, Palau, F, Monros, E, Vilchez, J, Prieto, F, Richter, A, Vanasse, M, Melancon, S, Cocozza, S, Redolfi, E, Cavalcanti, F, Pianese, L, Filla, A, DiDonato, S & Pandolfo, M 1993, 'Genetic recombination events which position the Friedreich ataxia locus proximal to the D9SI5/D9S5 linkage group on chromosome 9q', American Journal of Human Genetics, vol. 52, no. 1, pp. 99-109.
Chamberlain, Susan ; Farrall, Martin ; Shaw, Jacqui ; Wilkes, David ; Carvajal, Jaime ; Hillerman, Renate ; Doudney, Kit ; Harding, A. E. ; Williamson, Robert ; Sirugo, Giorgio ; Fujita, Ricardo ; Koenig, Michel ; Mandel, Jean Louis ; Palau, Francisco ; Monros, Eugenia ; Vilchez, Juan ; Prieto, Felix ; Richter, Andrea ; Vanasse, Michel ; Melancon, Serge ; Cocozza, Sergio ; Redolfi, Elena ; Cavalcanti, Francesca ; Pianese, Luigi ; Filla, Allesandro ; DiDonato, Stefano ; Pandolfo, Massimo. / Genetic recombination events which position the Friedreich ataxia locus proximal to the D9SI5/D9S5 linkage group on chromosome 9q. In: American Journal of Human Genetics. 1993 ; Vol. 52, No. 1. pp. 99-109.
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abstract = "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 [θ] = .01) and D9S5 (Z = 98.22; θ = .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.",
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AU - Hillerman, Renate

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AU - Melancon, Serge

AU - Cocozza, Sergio

AU - Redolfi, Elena

AU - Cavalcanti, Francesca

AU - Pianese, Luigi

AU - Filla, Allesandro

AU - DiDonato, Stefano

AU - Pandolfo, Massimo

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