Jay M, Wright A F, Clayton J F, Deans M, Dempster M, Bhattacharya S S, Jay B
Ophthalmic Paediatr Genet. 1986 Dec;7(3):201-4. doi: 10.3109/13816818609004139.
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.
利用位于X染色体上的4种DNA探针，对15个无脉络膜症家族的122名成员进行了无脉络膜症（TCD）的基因连锁研究。使用DNA探针DXS14（p58 - 1）、DXYS1（pDP 34）、DXS178（p212）和DXS177（λ2.7）分析连锁情况。与Nussbaum等人（1985年）的研究结果一致，证实DXYS1存在统计学显著连锁（θ = 0.00，优势对数4.95）。还发现DXS14（θ = 0.31，优势对数0.23）、DXS178（θ = 0.18，优势对数1.41）和DXS177（θ = 0.27，优势对数0.20）与TCD存在弱连锁的证据。结果表明，TCD位于Xq13 - q21区域。探针DXYS1可能在这种疾病的产前诊断中被证明是有用的。
