期刊
GENOMICS
卷 82, 期 1, 页码 86-95出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/S0888-7543(03)00078-8
关键词
dog; collie; canine; linkage mapping; eye; choroid
资金
- NCI NIH HHS [K05 CA90754, R01 CA92167] Funding Source: Medline
- NEI NIH HHS [EY13132, EY06855, EY13729] Funding Source: Medline
- NIGMS NIH HHS [T32 GM07270] Funding Source: Medline
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. (C) 2003 Elsevier Science (USA). All rights reserved.
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