A YAC contig across the fragile X site defines the region of fragility
Open Access
- 25 June 1991
- journal article
- research article
- Published by Oxford University Press (OUP) in Nucleic Acids Research
- Vol. 19 (12) , 3283-3288
- https://doi.org/10.1093/nar/19.12.3283
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 genomlc 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.Keywords
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