Mapping of mutation causing Friedreich's ataxia to human chromosome 9

• DOI: 10.1038/334248a0
• Publication Date: 2003-08-11T21:34:44Z
• Authors: Susan Chamberlain; Jacqui Shaw; Alison Rowland; Julie Wallis; Sally South; Yusuke Nakamura; Alexander von Gabain; Martin Farrall; Robert Williamson
• Keywords: Genetic linkage; Positional cloning

Friedreich's ataxia is an autosomal recessive disease with progressive degeneration of the central and peripheral nervous system. The biochemical abnormality underlying the disorder has not been identified. Prompted by the success in localizing the mutations causing Duchenne muscular dystrophy, Huntington's disease and cystic fibrosis, 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-beta gene probe. In contrast to the clinical variation seen for the disorder, no evidence of genetic heterogeneity is observed.