Linkage relationships of X-linked choroideremia to DXYS1 and DXS3

Hum Genet. 1987 Nov;77(3):233-5. doi: 10.1007/BF00284475.


Choroideremia is a distinct blinding condition with an X-linked pattern of inheritance. We have analyzed two RFLPs, DXS3 and DXYS1, for linkage with the choroideremia locus (TCD) within three kindreds. A maximum LOD score of 3.98 was obtained at theta = 0.14 for TCD:DXS3. The summed maximum LOD score from this study and from previously published TCD:DXYS1 data is 5.23 at theta = 0.05. Contrary to previous reports, the present data demonstrate that these two RFLPs are not tightly linked to the choroideremia gene locus.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Choroid*
  • Chromosome Mapping
  • Female
  • Genetic Linkage*
  • Genetic Markers
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length*
  • Uveal Diseases / genetics
  • X Chromosome*


  • Genetic Markers