Genetic mapping of X linked ocular albinism: linkage analysis in British families

J Med Genet. 1992 Aug;29(8):552-4. doi: 10.1136/jmg.29.8.552.

Abstract

Genetic linkage studies were performed in 16 British families affected by X linked ocular albinism (XLOA) using RFLPs from the Xp22.3 region. Linkage was confirmed between the XLOA locus (OA1) and the loci DXS143 (dic56; Zmax = 15.90 at theta = 0.0, confidence interval (CI) 0-0.035), DXS85 (782; Zmax = 15.67 at theta = 0.04, CI = 0.007-0.11), and DXS237 (GMGX9; Zmax = 12.65 at theta = 0.08, CI = 0.03-0.17). Multipoint linkage analysis placed OA1 between DXS85 (782) and DXS237 (GMGX9) with odds exceeding 10(4):1 to give the map DXS85-(OA1,DXS143)-DXS237-XG-Xpter. OA1 lies close to DXS143 (dic56) but in the absence of recombinants the order of these loci could not be determined.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Albinism, Ocular / genetics*
  • DNA Probes
  • Genetic Linkage*
  • Genetic Markers
  • Humans
  • Polymorphism, Restriction Fragment Length
  • United Kingdom
  • X Chromosome*

Substances

  • DNA Probes
  • Genetic Markers