Multipoint linkage analysis and homogeneity tests in 15 Dutch X-linked retinitis pigmentosa families

Ophthalmic Genet. 1995 Jun;16(2):63-70. doi: 10.3109/13816819509056914.

Abstract

Linkage analysis and homogeneity tests were carried out in 15 Dutch families segregating X-linked retinitis pigmentosa (X L R P). The study included segregation data for eight polymorphic DNA markers from the short arm of the human X chromosome. The results of both multipoint linkage analysis in individual families and heterogeneity analysis support the view that there are only two X L R P loci on the short arm of the human X chromosome, with one locus near the OTC gene and one in the vicinity of DXS255. Furthermore, our data confirm the hypothesis that a tapetal reflex in female carriers can be observed more frequently, if not exclusively, in X L R P families of the R P 3 type.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Chromosome Mapping
  • DNA / analysis
  • DNA Probes
  • Female
  • Genetic Heterogeneity
  • Genetic Linkage / genetics*
  • Genetic Markers
  • Humans
  • Male
  • Netherlands
  • Pedigree
  • Polymerase Chain Reaction
  • Retinitis Pigmentosa / genetics*
  • X Chromosome*

Substances

  • DNA Probes
  • Genetic Markers
  • DNA