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Molecular cloning and analysis of the fragile X region in man.
Journal article published in 1991 by
Alexander Dietrich,
Petra Kioschis,
Ap P. Monaco,
Baerbel Gross,
Bernhard Korn,
Sv V. Williams,
Denise Sheer 
,
Dominique Heitz,
Isabel Oberie,
Daniela Toniolo,
I. Oberle,
Stephen T. Warren,
Hans Lehrach,
Annemarie Poustka
,
Dominique Heitz,
Isabel Oberie,
Daniela Toniolo,
I. Oberle,
Stephen T. Warren,
Hans Lehrach,
Annemarie Poustka
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.