Choroideremia: further evidence for assignment of the locus to Xq13-Xq21

Hum Genet. 1986 Dec;74(4):449-52. doi: 10.1007/BF00280505.


Choroideremia is an X-linked hereditary retinal dystrophy leading to blindness in early adulthood. RFLP analyses in three Danish families were consistent with close linkage between choroideremia and the locus DXYS1, located at Xq13-Xq21. Measurable linkage was found between choroideremia and DXS17, at Xq22. Furthermore, choroideremia was diagnosed in a boy with an interstitial deletion at Xq13-Xq21, strongly suggesting the assignment of the locus for choroideremia to this region of the X chromosome. The deletion also covered DXYS1, but did not include DXS17.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Female
  • Genetic Linkage*
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Retinal Degeneration / genetics*
  • X Chromosome*