A genetic linkage study of choroideremia.

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.

• Authors: M Jay, A F Wright, J F Clayton, M Deans, M Dempster, S S Bhattacharya, B Jay
• Journal: Ophthalmic paediatrics and genetics (Ophthalmic Paediatr Genet) Vol. 7 Issue 3 Pg. 201-4 (Dec 1986) ISSN: 0167-6784 [Print] Netherlands
• PMID: 2882457 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA, Recombinant
• Genetic Markers

Topics

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