Molecular cloning and analysis of the fragile X region in man

Alexander Dietrich, Petra Kioschis, Anthony P. Monaco, Baerbel Gross, Bernhard Korn, Sarah V. Williams, Denise Sheer, Dominique Heitz, Isabel Oberle, Daniela Toniolo, Stephen T. Warren, Hans Lehrach, Annemarie Poustka

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)2567-2572
Number of pages6
JournalNucleic Acids Research
Issue number10
Publication statusPublished - May 25 1991

ASJC Scopus subject areas

  • Genetics
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Health, Toxicology and Mutagenesis
  • Toxicology
  • Genetics(clinical)


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