Hamel C P, Jenkins N A, Gilbert D J, Copeland N G, Redmond T M
Laboratory of Retinal Cell and Molecular Biology, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892.
Genomics. 1994 Apr;20(3):509-12. doi: 10.1006/geno.1994.1212.
The human and murine chromosomal localization for the gene for the retinal pigment epithelium-specific protein RPE65 was determined. Using interspecific backcross analysis, we mapped Rpe65 to the distal end of mouse chromosome 3. In the human, using a human-hamster hybrid panel, RPE65 was mapped to chromosome 1. By the use of fluorescence in situ hybridization, this localization was refined to 1p31. The mouse and human loci for this potential candidate gene for hereditary retinal disease do not match those of any known disease in mouse or man.
确定了视网膜色素上皮特异性蛋白RPE65基因在人和小鼠中的染色体定位。通过种间回交分析，我们将Rpe65定位到小鼠3号染色体的远端。在人类中，利用人-仓鼠杂交细胞系，将RPE65定位到1号染色体。通过荧光原位杂交，将该定位精确到1p31。这个遗传性视网膜疾病潜在候选基因在小鼠和人类中的基因座与小鼠或人类中任何已知疾病的基因座均不匹配。
