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. 1991 Jun 25;19(12):3283–3288. doi: 10.1093/nar/19.12.3283

A YAC contig across the fragile X site defines the region of fragility.

M C Hirst 1, K Rack 1, Y Nakahori 1, A Roche 1, M V Bell 1, G Flynn 1, Z Christadoulou 1, R N MacKinnon 1, M Francis 1, A J Littler 1
PMCID: PMC328323  PMID: 2062644

Abstract

The fragile X syndrome is a common cause of mental retardation and is associated with a fragile site at Xq27.3 (FRAXA). Recently, evidence has been presented for the role of methylation and genomic imprinting in the expression of the disease. We have identified a site of methylation in patients by long range restriction mapping of the region. In this paper we present a YAC contig of this area, localise the CpG sequences which are methylated, and show by in situ hybridisation that the site of fragility lies within this region.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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