A genetic linkage study of choroideremia

Ophthalmic Paediatr Genet. 1986 Dec;7(3):201-4. doi: 10.3109/13816818609004139.

Abstract

One hundred and twenty-two members of 15 choroideremia families have been used in a genetic linkage study of choroideremia (TCD) using four DNA probes situated on the X chromosome. Linkage was analysed using DNA probes DXS14 (p58-1), DXYS1 (pDP 34), DXS178 (p212) and DXS177 (lambda 2.7). Statistically significant linkage was demonstrated with DXYS1 (theta = 0.00, lod 4.95), in agreement with the findings of Nussbaum et al. (1985). Evidence consistent with loose linkage to TCD was also found with DXS14 (theta = 0.31, lod 0.23), DXS178 (theta = 0.18, lod 1.41) and DXS177 (theta = 0.27, lod 0.20). The results suggest that TCD is located in the region Xq13-q21. Probe DXYS1 is likely to prove useful in the prenatal diagnosis of this condition.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Choroid*
  • Chromosomes*
  • DNA, Recombinant
  • Genetic Linkage*
  • Genetic Markers
  • Humans
  • Polymorphism, Restriction Fragment Length
  • Sex Chromosome Aberrations / genetics
  • Uveal Diseases / diagnosis
  • Uveal Diseases / genetics*

Substances

  • DNA, Recombinant
  • Genetic Markers