Cytogenet Cell Genet. 1990;53(4):221-4.

Regional localisation of the Friedreich ataxia locus to human chromosome 9q13----q21.1.

Shaw J, Lichter P, Driesel AJ, Williamson R, Chamberlain S.

Source

Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, University of London, England.

Abstract

We have previously assigned the Friedreich ataxia locus (FRDA) to chromosome 9; the current maximal lod score between FRDA and MCT112 (D9S15) is greater than 50 at a recombination fraction of theta = 0. The physical assignment of the locus defined by MCT112, and hence FRDA, has not been determined, although linkage analysis of MCT112 with other chromosome 9 markers inferred a location close to the centromere. We have used in situ hybridisation with MCT112, a corresponding cosmid MJ1, and DR47 (D9S5), coupled with mapping studies on hybrid cell panels, to define more precisely the location of the disease locus. The in situ location of all three probes is 9q13----q21.1, distal to the variable heterochromatin region. Physical assignment of FRDA will allow us to identify hybrid cell lines containing the mutated gene.

PMID:: 2209091; [PubMed - indexed for MEDLINE]

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Research Support, Non-U.S. Gov't

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DNA Probes

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Medical

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Related citations in PubMed

The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15. [Am J Hum Genet. 1990]
The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15.
Hanauer A, Chery M, Fujita R, Driesel AJ, Gilgenkrantz S, Mandel JL. Am J Hum Genet. 1990 Jan; 46(1):133-7.
Physical evidence for the position of the Friedreich's ataxia locus FRDA proximal to D9S5. [Cytogenet Cell Genet. 1995]
Physical evidence for the position of the Friedreich's ataxia locus FRDA proximal to D9S5.
Hillermann R, See CG, Pook M, Wilkes D, Carvajal J, Doudney K, Williamson R, Chamberlain S. Cytogenet Cell Genet. 1995; 71(3):214-6.
Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia. [Proc Natl Acad Sci U S A. 1990]
Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia.
Fujita R, Hanauer A, Sirugo G, Heilig R, Mandel JL. Proc Natl Acad Sci U S A. 1990 Mar; 87(5):1796-800.
Review Friedreich ataxia. [Clin Neurosci. 1995]
Review Friedreich ataxia.
Johnson WG. Clin Neurosci. 1995; 3(1):33-8.
Review Friedreich ataxia: an overview. [J Med Genet. 2000]
Review Friedreich ataxia: an overview.
Delatycki MB, Williamson R, Forrest SM. J Med Genet. 2000 Jan; 37(1):1-8.

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Cited by 5 PubMed Central articles

Review Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities. [Antioxid Redox Signal. 2010]
Review Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.
Santos R, Lefevre S, Sliwa D, Seguin A, Camadro JM, Lesuisse E. Antioxid Redox Signal. 2010 Sep 1; 13(5):651-90.
Review Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and beta cell failure. [J Med Genet. 2005]
Review Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and beta cell failure.
Porter JR, Barrett TG. J Med Genet. 2005 Dec; 42(12):893-902. Epub 2005 Mar 16.
Genetic recombination events which position the Friedreich ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q. [Am J Hum Genet. 1993]
Genetic recombination events which position the Friedreich ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q.
Chamberlain S, Farrall M, Shaw J, Wilkes D, Carvajal J, Hillerman R, Doudney K, Harding AE, Williamson R, Sirugo G. Am J Hum Genet. 1993 Jan; 52(1):99-109.

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