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Nucleic Acids Research, 1991, Vol. 19, No. 10 2567-2572
© 1991

MOLECULAR BIOLOGY

Molecular cloning and analysis of the fragile X region in man

Alexander Dietrich, Petra Kioschis, Anthony P. Monaco1,+, Baerbel Gross, Bernhard Korn, Sarah V. Williams1, Denise Sheer1, Dominique Heitz2, Isabel Oberie2, Daniela Toniolo3, Stephen T. Warren4, Hans Lehrach1 and Annemarie Poustka*

Deutsches Krebsforschungszentrum, Institut fuer Virusforschung Im Neuenheimer Feld 506, D-6900, Heidelberg, FRG 1Imperial Cancer Research Fund, Lincoln's Inn Fields London WC2A 3PX, UK 2Laboratoire de Genetique Moleculaire des Eucaryotes, Unite de Biologie Moleculaire et de Genie Genetique U184 11 rue Humann, 67085 Strasbourg Cedex, France 3Istituto di Genetica Biochimica Ed Evoluzionistica Via Abbiategrasso 207, Pavia, 27100, Italy 4Departments of Biochemistry and Pediatrics, Division of Medical Genetics, Emory University School of Medicine Atlanta, GA 30322, USA

* To whom correspondence should be addressed

Received April 5, 1991. Accepted April 18, 1991.

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.

+ Present address: Institute for Molecular Medicine-ICRF, John Radcliffe Hospital, Oxford OX3 9DU, UK


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