Balciuniene J, Johansson K, Sandgren O, Wachtmeister L, Holmgren G, Forsman K
Department of Clinical Genetics, University Hospital, Umaå, Sweden.
Genomics. 1995 Nov 20;30(2):281-6. doi: 10.1006/geno.1995.9876.
Inherited retinal dystrophy is a common cause of visual impairment. Cone dystrophy affects the cone function and is manifested as progressive loss of the central vision, defective color vision, and photophobia. Linkage was demonstrated between progressive cone dystrophy (CORD5) and genetic markers on chromosome 17p12-p13 in a five-generation family. Multipoint analysis gave a maximum lod score of 7.72 at the marker D17S938. Recombinant haplotypes in the family suggest that the cone dystrophy locus is located in a 25-cM interval between the markers D17S926/D17S849 and D17S804/D17S945. Furthermore, one recombination was detected between the disease locus and a microsatellite marker in the candidate gene RCV1, encoding the retinal protein recoverin. Two additional candidate genes encoding retinal guanylate cyclase (GUC2D) and pigment epithelium-derived factor (PEDF) are located at 17p13.1. Moreover, loci for retinitis pigmentosa and Leber congenital amaurosis have been mapped to the same region. Identification of the cone dystrophy locus may be of importance not only for identifying functional genes in the cone system, but also for identifying genes for other retinal disorders.
遗传性视网膜营养不良是视力损害的常见原因。视锥细胞营养不良影响视锥细胞功能，表现为中心视力进行性丧失、色觉缺陷和畏光。在一个五代家族中，证实进行性视锥细胞营养不良（CORD5）与17号染色体p12 - p13上的遗传标记之间存在连锁关系。多点分析在标记D17S938处给出的最大对数优势得分为7.72。该家族中的重组单倍型表明，视锥细胞营养不良基因座位于标记D17S926/D17S849与D17S804/D17S945之间25厘摩的区间内。此外，在疾病基因座与候选基因RCV1（编码视网膜蛋白恢复蛋白）中的一个微卫星标记之间检测到一次重组。另外两个编码视网膜鸟苷酸环化酶（GUC2D）和色素上皮衍生因子（PEDF）的候选基因位于17p13.1。此外，色素性视网膜炎和莱伯先天性黑矇的基因座也已定位到同一区域。视锥细胞营养不良基因座的鉴定不仅对于鉴定视锥细胞系统中的功能基因很重要，而且对于鉴定其他视网膜疾病的基因也很重要。
