Physical map of human Xq27-qter: Localizing the region of the fragile X mutation

Annemarie Poustka, Alexander Dietrich, Gaby Langenstein, Daniela Toniolo, Stephen T. Warren, Hans Lehrach

Research output: Contribution to journalArticlepeer-review


We describe a physical map of the end of the long arm of the human X chromosome encompassing the region from Xq27.2 to the q telomere, inclusive of the chromosomal band Xq28. This region is of particular interest, since it contains the highest density of genes associated with genetic diseases. The map covers a total of 12 megabases (Mb) of DNA and extends from the telomere to 3 Mb beyond the most likely position of the fragile X mutation, defined by a cluster of translocation breakpoints in somatic cell hybrids. The map determines order and position of loci throughout the Xq28 region and localizes cell line breakpoints marking the fragile X region to an interval of 300-700 kiiobases between 8 and 8.7 Mb proximal of the Xq telomere.

Original languageEnglish
Pages (from-to)8302-8306
Number of pages5
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number19
Publication statusPublished - Oct 1 1991


  • Pulsed-field gel map
  • Tetomere
  • X chromosome
  • Xq28

ASJC Scopus subject areas

  • General
  • Genetics


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