Zhang R L, Samuelson D A, Zhang Z G, Reddy V N, Shastry B S
Eye Research Institute of Oakland University, Rochester, Michigan 48309.
Invest Ophthalmol Vis Sci. 1991 Aug;32(9):2662-5.
The congenital hereditary cataracts and microphthalmia in the miniature schnauzer dog are inherited by an autosomal recessive mode. To understand the genetic basis of these diseases, the authors purified and analyzed leukocyte deoxyribonucleic acid (DNA) from affected and normal animals using a candidate gene approach. Because the genes that encode the lens-specific proteins, specifically, alpha, beta, and gamma crystallins and the membrane protein (MP26), are known to maintain the structure and function of the lens, the authors used complimentary DNA (cDNA) fragments that corresponded to the above genes to search for the mutations at their loci in the affected animals. They found no evidence of the gene deletion and rearrangement in any of the five loci. In addition, the hybridizable sequences of the dog DNA to the specific probes for the human chromosome 4 and 18 loci, which are reported to be involved in the abnormality of the human eye, seem to be unaffected. These data support the notion that the hereditary cataracts and microphthalmia in the dog may be associated with genes other than those reported for several animal systems.
迷你雪纳瑞犬的先天性遗传性白内障和小眼症以常染色体隐性模式遗传。为了解这些疾病的遗传基础，作者采用候选基因方法，从患病和正常动物中纯化并分析白细胞脱氧核糖核酸（DNA）。由于已知编码晶状体特异性蛋白质（具体为α、β和γ晶状体蛋白以及膜蛋白（MP26））的基因维持晶状体的结构和功能，作者使用与上述基因对应的互补DNA（cDNA）片段，在患病动物的基因座上寻找突变。他们在五个基因座中的任何一个都未发现基因缺失和重排的证据。此外，犬DNA与据报道与人眼异常有关的人类染色体4和18基因座的特异性探针的可杂交序列似乎未受影响。这些数据支持这样一种观点，即犬的遗传性白内障和小眼症可能与几个动物系统中报道的基因以外的其他基因有关。
