Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21

Am J Hum Genet. 1985 May;37(3):473-81.


Choroideremia (McK30310), an X-linked hereditary retinal dystrophy, causes night-blindness, progressive peripheral visual field loss, and, ultimately, central blindness in affected males. The location of choroideremia on the X chromosome is unknown. We have used restriction fragment length polymorphisms from the X chromosome to determine the regional localization of choroideremia by linkage analysis in families with this disease. One such polymorphic locus, DXYS1, located on the long arm (Xq) within bands q13-q21, shows no recombination with choroideremia at lod = 5.78. Therefore, with 90% probability, choroideremia maps within 9 centiMorgans (cM) of DXYS1. Another polymorphic locus, DXS11, located within Xq24-q26, also shows no recombination with choroideremia, although at a smaller lod score of 1.54 (90% probability limit theta less than 30 cM). This linkage with DXS11, a marker that is distal to DXYS1, suggests that the locus for choroideremia is also distal to DXYS1 and lies between these two markers in the region Xq13-q24. These results provide regional mapping for the disease that may be useful for prenatal diagnosis and, perhaps ultimately, for isolating the gene locus for choroideremia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Choroid*
  • Chromosome Mapping*
  • DNA Restriction Enzymes
  • Female
  • Genetic Linkage*
  • Genetic Markers
  • Humans
  • Lod Score
  • Male
  • Pedigree
  • Polymorphism, Genetic*
  • Retinal Degeneration / genetics*
  • Uveal Diseases / genetics
  • X Chromosome*


  • Genetic Markers
  • DNA Restriction Enzymes