Inglehearn Chris F, Morrice David R, Lester Douglas H, Robertson Graeme W, Mohamed Moin D, Simmons Ian, Downey Louise M, Thaung Caroline, Bridges Leslie R, Paton Ian R, Smith Jacqueline, Petersen-Jones Simon, Hocking Paul M, Burt David W
Molecular Medicine Unit, St. James's University Hospital, University of Leeds, Leeds, UK.
Mol Vis. 2003 Jul 1;9:295-300.
To identify the locus responsible for rge (retinopathy globe enlarged) in chickens and further characterise the rge phenotype.
A colony of chickens carrying the rge mutation was rederived from a single heterozygous animal of the original line. The eyes of blind, heterozygous and normal birds were subjected to ophthalmic, morphometric and histopathological examination to confirm and extend published observations. DNA samples were obtained and subjected to a whole genome linkage search.
From 138 classified backcross progeny, 56 birds were blind and 82 sighted. Heterozygous birds were indistinguishable from wild type, but homozygotes had sluggish or unresponsive pupils, posterior sub-capsular lens opacities and an atrophic pecten. The fundus appeared normal with no significant pigmentary disturbance, but axial length and eye weight were increased. Pathology revealed focal retinal lesions. Linkage analysis placed the rge locus in a small region of chicken chromosome 1.
rge is a severe recessive retinal dystrophy in chickens, with associated globe enlargement. Linkage mapping has highlighted chicken chromosome 1 in a region most probably homologous to human chromosomes 7q31-35, 21q21 or 22q12-21. Candidate disease loci include RP10 (IMPDH1) and uncharacterised Ushers (USH1E) and glaucoma (GLC1F) loci.
鉴定鸡中导致rge（视网膜病变伴眼球增大）的基因座，并进一步描述rge表型。
从原始品系的一只杂合动物重新培育出携带rge突变的鸡群。对失明、杂合和正常鸡的眼睛进行眼科、形态测量和组织病理学检查，以确认并扩展已发表的观察结果。获取DNA样本并进行全基因组连锁搜索。
在138只分类回交后代中，56只鸡失明，82只视力正常。杂合鸡与野生型无明显差异，但纯合子有瞳孔迟缓或无反应、后囊下晶状体混浊和萎缩性栉膜。眼底看起来正常，无明显色素紊乱，但眼轴长度和眼重增加。病理学显示局灶性视网膜病变。连锁分析将rge基因座定位在鸡1号染色体的一个小区域。
rge是鸡中的一种严重隐性视网膜营养不良，伴有眼球增大。连锁图谱突出了鸡1号染色体上一个最可能与人类7号染色体q31 - 35、21号染色体q21或22号染色体q12 - 21同源的区域。候选疾病基因座包括RP10（IMPDH1）以及未表征的Usher（USH1E）和青光眼（GLC1F）基因座。
