Cloning of canine galactokinase (GALK1) and evaluation as a candidate gene for hereditary cataracts in Labrador retrievers.
نویسندگان
چکیده
We identified a pedigree of Labrador retrievers (LR) that develop hereditary cataracts between 6 and 18 months of age. In humans, galactokinase deficiency is an autosomal recessive disorder characterized by juvenile onset of cataracts. 1 In order to evaluate GALK1 as a candidate gene, we cloned and sequenced the canine GALK1 gene and tested a single nucleotide polymorphism (SNP) in the gene for segregation with cataracts in the LR pedigree. Source/description We identified a pedigree of Labrador retrievers (LR) that develop hereditary cataracts between 6 and 18 months of age. In humans, galactokinase deficiency is an autosomal recessive disorder characterized by juvenile onset of cataracts. 1 In order to evaluate GALK1 as a candidate gene, we cloned and sequenced the canine GALK1 gene and tested a single nucleotide polymorphism (SNP) in the gene for segregation with cataracts in the LR pedigree. Pedigree Progeny from the LR pedigree were examined at 8 weeks of age and again between 14 and 20 months. At the time of the progeny eye exam, the parents were also evaluated for cataracts. Mydriasis was induced using 1% tropicamide, and the corneas, anterior segments, lenses and ocular fundi were examined using indirect ophthalmoscopy and slit lamp bio-microscopy. The cataracts developed between 6 and 18 months of age, and initially appear as posterior subcapsular triangular cataracts. Progression was characterized by very slight linear opacification of the posterior cortical fibers originating from the sides of the triangle. The hereditary cataracts in golden retrievers and LR have been proposed to be a dominant trait with incomplete penetrance. 4,5 However, based on planned matings and subsequent pedigree analyses, we established an autosomal recessive mode of inheritance for the cataracts in both breeds (G. D. Aguirre, unpublished results).
منابع مشابه
Cloning of a human galactokinase gene (GK2) on chromosome 15 by complementation in yeast.
A human cDNA encoding a galactokinase (EC 2.7.1.6) was isolated by complementation of a galactokinase-deficient (gal1-) strain of Saccharomyces cerevisiae. This cDNA encodes a predicted protein of 458 amino acids with 29% identity to galactokinase of Saccharomyces carlsbergensis. Previous studies have mapped a human galactokinase gene (GK1) to chromosome 17q23-25, closely linked to thymidine ki...
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ورودعنوان ژورنال:
- Animal genetics
دوره 36 3 شماره
صفحات -
تاریخ انتشار 2005