Molecular cloning and analysis of the fragile X region in man.
The fragile X syndrome (FraX), the most common inherited form of mental retardation, has been located to Xq27.3. As a step in the molecular analysis of this mutation, we have cloned a contiguous 1.8 Mb region containing the entire fragile X region in YAC and cosmid clones. The cloned area defines a region of 50 kb containing a CpG island, found to be selectively methylated in patients expressing the fragile X phenotype. In this 50kb area we have localised the breakpoints of four somatic cell hybrids selected to break at the position of the fragile site. Fluorescence in-situ hybridisation of cosmids flanking this area shows that the breakpoints, the CpG island and the fragile site coincide.
Dietrich
A
A
Deutsches Krebsforschungszentrum, Institut fuer Virusforschung, Heidelberg, FRG.
Kioschis
P
P
Monaco
A P
AP
Gross
B
B
Korn
B
B
Williams
S V
SV
Sheer
D
D
Heitz
D
D
Oberle
I
I
Toniolo
D
D
D015825:Chromosomes, Fungal; D003001:Cloning, Molecular; D003360:Cosmids; D015226:Dinucleoside Phosphates / Q000378:metabolism; D004586:Electrophoresis; D005453:Fluorescence; D005600:Fragile X Syndrome / Q000235:genetics*; D015723:Gene Library; D015894:Genome, Human; D006801:Humans; D008745:Methylation; D009693:Nucleic Acid Hybridization; D015183:Restriction Mapping; D014960:X Chromosome
D015226:Dinucleoside Phosphates; C015772:CpG dinucleotide