Linkage analysis in X-linked ocular albinism

Genomics. 1991 Apr;9(4):605-13. doi: 10.1016/0888-7543(91)90353-g.


We studied the linkage of X-linked Nettleship-Falls ocular albinism (OA1) to Xp22.1-Xp22.3 RFLPs at 12 loci in five families, including one in which OA1 cosegregates with a deletion of steroid sulfatase (STS). We found evidence for tight linkage of OA1 to the Xp22.3 loci DXS143, STS, and DXS452. DXS452, a newly described polymorphism detected by the probe E25B1.8, is part of the sequence family "DXS278" (pCRI-S232), but represents a single genetic locus. Every female in this study was heterozygous for the DXS452 RFLP. Thus, this marker will be extremely useful for family studies and genetic counseling. Analysis of individual recombinations suggests that OA1 maps between DXS143 and DXS85. Multipoint linkage analysis was consistent with this localization but was not statistically significant. These data suggest that OA1 lies proximal to the deletion in a previously described family with OA1 and STS deletion, but maps within the Xp22.3-Xp22.2 region.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Albinism, Ocular / genetics*
  • Arylsulfatases / genetics
  • Blotting, Southern
  • Cell Line
  • Chromosome Deletion
  • Female
  • Genetic Linkage*
  • Heterozygote
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Sex Chromosome Aberrations
  • Steryl-Sulfatase
  • X Chromosome*


  • Arylsulfatases
  • Steryl-Sulfatase