1.
Nucleic Acids Res
; 19(12): 3283-8, 1991 Jun 25.
Article
in English
| MEDLINE
| ID: mdl-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.