1. Identification of CpG islands in a physical map encompassing the Friedreich's ataxia locus
- Author
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Robert Williamson, Albert G. Driesel, John H. Riley, Jacqui Shaw, Julie Wallis, Rakesh Anand, Peter Winter, David Wilkes, and Susan Chamberlain
- Subjects
Genetics ,Ataxia ,Restriction Mapping ,Chromosome Mapping ,Locus (genetics) ,Molecular cloning ,Biology ,Restriction map ,CpG site ,Gene mapping ,Friedreich Ataxia ,Genetic marker ,medicine ,Humans ,Cloning, Molecular ,medicine.symptom ,Chromosomes, Human, Pair 9 ,Gene ,Dinucleoside Phosphates - Abstract
The Friedreich's ataxia locus has been previously assigned to chromosome 9q 13-21.1 by the demonstration of tight linkage to two anonymous DNA markers. MCT112 (Z greater than 80, theta = 0) and DR47 (Z greater than 50, theta = 0). The absence of recombination between these three loci has prevented the resolution of gene/probe order in this region, impeding strategies for gene isolation. We report physical mapping over a 4-Mb genomic interval, linking the markers MCT112 and DR47 on a common 460-kb NotI fragment and identifying 11 CpG islands in the 1.7-Mb interval most likely to contain the Friedreich's ataxia locus. Four of these islands were detected only by analysis of three YAC clones spanning a 700-kb interval including the MCT112/DR47 cluster. Without clear evidence of the precise location of the disease locus from recombination events, each of these regions must be considered as specifying a potential "candidate" sequence for the mutated gene.
- Published
- 1991
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