Mapping of mutation causing Friedreich's ataxia to human chromosome 9 (original) (raw)

Nature volume 334, pages 248–250 (1988)Cite this article

Abstract

Friedreich's ataxia is an autosomal recessive disease with progressive degeneration of the central and peripheral nervous system1,2. The biochemical abnormality underlying the disorder has not been identified. Prompted by the success in localizing the mutations causing Duchenne muscular dystrophy3,4, Huntington's disease5 and cystic fibrosis6–8, we have undertaken molecular genetic linkage studies to determine the chromosomal site of the Friedreich's ataxia mutation as an initial step towards the isolation and characterization of the defective gene. We report the assignment of the gene mutation for this disorder to chromosome 9p22-CEN by genetic linkage to an anonymous DNA marker MCT112 and the interferon-β gene probe. In contrast to the clinical variation seen for the disorder, no evidence of genetic heterogeneity is observed.

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Author notes

  1. Yusuke Nakamura: Howard Hughes Medical Institute, University of Utah School of Medicine, Salt Lake City, Utah 84123, USA
  2. Alexander von Gabain: Department of Bacteriology, Karolinska Institutet, Box 60400, 104 01 Stockholm, Sweden

Authors and Affiliations

  1. Department of Biochemistry and Molecular Genetics, Saint Mary's Hospital Medical School, University of London, London, W2 1PG, UK
    Susan Chamberlain, Jacqui Shaw, Alison Rowland, Julie Wallis, Sally South, Yusuke Nakamura, Alexander von Gabain, Martin Farrall & Robert Williamson

Authors

  1. Susan Chamberlain
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  2. Jacqui Shaw
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  3. Alison Rowland
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  4. Julie Wallis
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  5. Sally South
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  6. Yusuke Nakamura
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  7. Alexander von Gabain
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  8. Martin Farrall
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  9. Robert Williamson
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Chamberlain, S., Shaw, J., Rowland, A. et al. Mapping of mutation causing Friedreich's ataxia to human chromosome 9.Nature 334, 248–250 (1988). https://doi.org/10.1038/334248a0

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