Wolff G, Mayerová A, Wienker T F, Atalianis P, Ioannou P, Warburg M
Institut für Humangenetik, Freiburg, Germany.
J Med Genet. 1992 Nov;29(11):816-9. doi: 10.1136/jmg.29.11.816.
We present the results of a clinical and genetic reinvestigation of the Cypriot family affected by an X chromosomally inherited eye disease originally published by Taylor et al, who coined the term Episkopi blindness. The pedigree was extended to 160 members, including 16 affected males out of 48 males at risk for the disease, most of whom were seen by one of us (PA). Affected males are blind with no associated symptoms and apparently are not mentally retarded. Thirty-nine family members agreed to blood sampling for genetic investigations. RFLP analysis was performed using probes from the region known to be deleted in some Norrie patients and polymorphic markers (DXS77, DXS7, MAOA, DXS255) from the proximal short arm of the X chromosome. There was no deletion for any of the probes in the affected males. Linkage analysis yielded positive lod scores for all informative markers (Z (DXS255, theta = 0) = 6.54, Z (MAOA, theta = 0) = 2.23, Z (DXS7, theta = 0) = 2.13). Thus, the conclusion that Episkopi blindness and Norrie disease (NDP, MIM *310600) are the same entity based on clinical evidence is now reinforced by gene mapping.
我们展示了对一个受X染色体遗传性眼病影响的塞浦路斯家族进行临床和基因重新研究的结果。该家族最初由泰勒等人报道，他们创造了“埃皮斯科皮失明症”这一术语。家系已扩展至160名成员，包括48名有患病风险的男性中的16名患病男性，其中大多数由我们中的一人（PA）进行了检查。患病男性失明且无相关症状，显然智力也未受损。39名家庭成员同意采集血样进行基因研究。使用来自已知在一些诺里病患者中缺失区域的探针以及来自X染色体近端短臂的多态性标记（DXS77、DXS7、MAOA、DXS255）进行了限制性片段长度多态性（RFLP）分析。患病男性中任何探针均未出现缺失。连锁分析对所有信息性标记产生了阳性连锁值（Z（DXS255，θ = 0）= 6.54，Z（MAOA，θ = 0）= 2.23，Z（DXS7，θ = 0）= 2.13）。因此，基于临床证据得出的埃皮斯科皮失明症和诺里病（NDP，MIM *310600）是同一疾病实体的结论，现在通过基因定位得到了加强。
