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Human Genetics

, Volume 92, Issue 1, pp 95–99 | Cite as

Physical mapping shows close linkage between the α-galactosidase A gene (GLA) and the DXS178 locus

  • David Vetrie
  • David Bentley
  • Martin Bobrow
  • Ann Harris
Short Communications

Abstract

X-linked agammaglobulinaemia (XLA) is an inherited disorder characterised by a lack of circulating B-cells and antibodies. While the gene involved in XLA has not yet been identified, the locus for the disorder is tightly linked to the polymorphic marker DXS178, which maps to Xq22. Fabry disease is an X-linked recessive disorder caused by a deficiency in the lysosomal enzyme α-galactosidase A. The gene encoding this enzyme has been characterized and also maps to Xq22. Using pulsed field gel electrophoresis we have constructed a long-range restriction map that shows that the α-galactosidase A gene (GLA) and DXS178 lie no more than 140 kb apart on a stretch of DNA containing a number of putative CpG islands. We have also isolated yeast artifical chromosome (YAC) clones that confirm this physical linkage. The localisation of DXS178 near the α-galactosidase A gene will facilitate carrier detection in Fabry families using restriction fragment length polymorphism (RFLP) analysis. The identification of a number of CpG islands near DXS178 also provides candidate locations for the gene responsible for XLA.

Keywords

Restriction Fragment Length Polymorphism Polymorphic Marker Lysosomal Enzyme Fabry Disease Close Linkage 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1993

Authors and Affiliations

  • David Vetrie
    • 1
  • David Bentley
    • 1
  • Martin Bobrow
    • 1
  • Ann Harris
    • 2
  1. 1.Paediatric Research Unit, Division of Medical and Molecular GeneticsUnited Medical and Dental Schools of Guy's and St. Thomas's Hospitals, Guy's CampusLondonUK
  2. 2.Paediatric Molecular Genetics, Institute of Molecular Medicine, The John Radcliffe HospitalHeadingtonUK

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