Orientation of the Friedreich`s ataxia linkage group by fluorescent in situ hybridisation
- Imperial College, London (United Kingdom); and others
The tight linkage between the Friedreich`s ataxia (FRDA) locus and the DNA marker loci originally used to assign the mutation to chromosome 9q13-21.1 has caused great difficulty in determining the precise order of the disease locus with respect to the markers. Investigation of a single-recombination event identified by a collaborative study indicated that the most probable order for the linkage group is cen-FRDA-D9S5-D9S15-qter. To confirm this order, essential for the final cloning strategy, we have undertaken fluorescent in situ hybridization studies on pro-metaphase chromosomes. Cosmid clones isolated from the proximal and distal ends of a YAC contig spanning a 1.2 Mb interval containing the gene were labelled with biotin and digoxigenin, respectively, and analyzed utilising dual color detection methods. An orientation of cen-D9S5-D9S15-qter was demonstrated on normal chromosomes, which confirms and strengthens the genetic data. These markers were also orientated on a polymorphic inverted chromosome 9 and a corresponding order demonstrated, suggesting that the inversion does not disrupt or interfere with the region containing the FRDA gene.
- OSTI ID:
- 134418
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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