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. 1991 May 25;19(10):2567–2572. doi: 10.1093/nar/19.10.2567

Molecular cloning and analysis of the fragile X region in man.

A Dietrich 1, P Kioschis 1, A P Monaco 1, B Gross 1, B Korn 1, S V Williams 1, D Sheer 1, D Heitz 1, I Oberle 1, D Toniolo 1
PMCID: PMC328171  PMID: 2041732

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 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.

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Selected References

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