Original Investigations

Human Genetics

, Volume 75, Issue 4, pp 378-380

First online:

X-linked hypohidrotic ectodermal dysplasia: DNA probe linkage analysis and gene localization

  • A. ClarkeAffiliated withSection of Medical Genetics, University of Wales College of Medicine
  • , M. SarfaraziAffiliated withSection of Medical Genetics, University of Wales College of Medicine
  • , N. S. T. ThomasAffiliated withSection of Medical Genetics, University of Wales College of Medicine
  • , K. RobertsAffiliated withSection of Medical Genetics, University of Wales College of Medicine
  • , P. S. HarperAffiliated withSection of Medical Genetics, University of Wales College of Medicine

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Summary

A linkage study of 24 families with hypohidrotic (anhidrotic) ectodermal dysplasia (HED) has been performed. The previously suggested linkage to DXYS1 has been confirmed, and linkage to probes DXS14 and DXS3 has been established. We suggest that the HED locus lies in the centromeric region between DXYS1 on the long arm and DXS14 on the short arm of the X chromosome, probably on proximal Xq.