A YAC contig across the fragile X site defines the region of fragility.
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.
Hirst
M C
MC
Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.
Rack
K
K
Nakahori
Y
Y
Roche
A
A
Bell
M V
MV
Flynn
G
G
Christadoulou
Z
Z
MacKinnon
R N
RN
Francis
M
M
Littler
A J
AJ
D001483:Base Sequence; D015825:Chromosomes, Fungal; D003001:Cloning, Molecular; D004247:DNA; D005600:Fragile X Syndrome / Q000235:genetics*; D015723:Gene Library; D015894:Genome, Human; D006801:Humans; D008297:Male; D008745:Methylation; D008969:Molecular Sequence Data; D009693:Nucleic Acid Hybridization; D015183:Restriction Mapping; D014960:X Chromosome
D004247:DNA