Molecular cloning and analysis of the fragile X region in man
Open Access
- 25 May 1991
- journal article
- Published by Oxford University Press (OUP) in Nucleic Acids Research
- Vol. 19 (10), 2567-2572
- https://doi.org/10.1093/nar/19.10.2567
Abstract
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 cosmld 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.Keywords
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