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迷你雪纳瑞犬先天性遗传性白内障和小眼症的研究

Studies on congenital hereditary cataract and microphthalmia of the miniature schnauzer dog.

作者信息

Shastry B S, Reddy V N

机构信息

Eye Research Institute of Oakland University, Rochester, MI 48309.

出版信息

Biochem Biophys Res Commun. 1994 Sep 30;203(3):1663-7. doi: 10.1006/bbrc.1994.2377.

Abstract

Hereditary cataract in dogs occurs as an autosomal recessive trait. The opacity is primarily in the lens nucleus and posterior cortex. The affected animals also have other ocular abnormalities such as microphthalmia. To understand the genetic basis of this disorder, we have analyzed leukocyte DNA from affected and normal dogs for possible mutations in the homeobox containing gene and myotonic dystrophy locus. The results show that there are no signs of microdeletion, insertion, point mutation and rearrangements in these loci. Although these observations cannot completely rule out the possibility of point mutations, they suggest that the above loci are unlikely to be associated with the disease.

摘要

犬遗传性白内障以常染色体隐性性状出现。浑浊主要位于晶状体核和后皮质。患病动物还存在其他眼部异常,如小眼症。为了解这种疾病的遗传基础,我们分析了患病和正常犬的白细胞DNA,以寻找含同源框基因和强直性肌营养不良位点中可能存在的突变。结果显示,这些位点没有微缺失、插入、点突变和重排的迹象。虽然这些观察结果不能完全排除点突变的可能性,但表明上述位点不太可能与该疾病相关。

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