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. 1991 Jun 25;19(12):3283-8.
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, Y Nakahori, A Roche, M V Bell, G Flynn, Z Christadoulou, R N MacKinnon, M Francis, A J Littler, et al.
Affiliations
Free PMC article

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

M C Hirst et al. Nucleic Acids Res. .
Free PMC article

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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