Lowe Jennifer K, Kukekova Anna V, Kirkness Ewen F, Langlois Mariela C, Aguirre Gustavo D, Acland Gregory M, Ostrander Elaine A
Division of Human Biology, Fred Hutchinson Cancer Research Center, 1100 Fairview Avenue North, D4-100, Seattle, WA 98109-1024, USA.
Genomics. 2003 Jul;82(1):86-95. doi: 10.1016/s0888-7543(03)00078-8.
Collie eye anomaly (cea) is a hereditary ocular disorder affecting development of the choroid and sclera segregating in several breeds of dog, including rough, smooth, and Border collies and Australian shepherds. The disease is reminiscent of the choroidal hypoplasia phenotype observed in humans in conjunction with craniofacial or renal abnormalities. In dogs, however, the clinical phenotype can vary significantly; many dogs exhibit no obvious clinical consequences and retain apparently normal vision throughout life, while severely affected animals develop secondary retinal detachment, intraocular hemorrhage, and blindness. We report genetic studies establishing that the primary cea phenotype, choroidal hypoplasia, segregates as an autosomal recessive trait with nearly 100% penetrance. We further report linkage mapping of the primary cea locus to a 3.9-cM region of canine chromosome 37 (LOD = 22.17 at theta = 0.076), in a region corresponding to human chromosome 2q35. These results suggest the presence of a developmental regulatory gene important in ocular embryogenesis, with potential implications for other disorders of ocular vascularization.
柯利犬眼异常（CEA）是一种遗传性眼部疾病，会影响脉络膜和巩膜的发育，在多个犬种中出现分离现象，包括粗毛柯利犬、顺毛柯利犬、边境牧羊犬和澳大利亚牧羊犬。这种疾病让人联想到人类中与颅面或肾脏异常相关的脉络膜发育不全表型。然而，在犬类中，临床表型差异很大；许多犬没有明显的临床症状，一生视力似乎都正常，而严重受影响的动物会出现继发性视网膜脱离、眼内出血和失明。我们报告了遗传学研究，证实主要的CEA表型——脉络膜发育不全——作为常染色体隐性性状分离，外显率近100%。我们还进一步报告了主要CEA基因座与犬37号染色体上一个3.9厘摩区域的连锁图谱（在θ = 0.076时LOD = 22.17），该区域对应于人类2号染色体q35。这些结果表明存在一个在眼胚胎发生中起重要作用的发育调节基因，对其他眼部血管生成障碍可能有影响。
