Peer-reviewed veterinary case report
DNA test versus enzyme test for diagnosing GM1 gangliosidosis
By Yamato, Osamu et al.·Published in Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc·2004·Department of Veterinary Clinical Sciences, Japan·View original on PubMed →
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Original publication title: Comparison of polymerase chain reaction-restriction fragment length polymorphism assay and enzyme assay for diagnosis of G(M1)-gangliosidosis in Shiba dogs.
- Species:
- dog
Plain-English summary
A group of Shiba dogs was tested for G(M1)-gangliosidosis, a genetic disorder that affects their nervous system. Researchers compared two diagnostic methods: a DNA test and an enzyme test that measures beta-galactosidase activity in blood and tissues. They found that the enzyme test could help identify dogs that are severely affected, but the DNA test was necessary for accurately identifying carriers of the disease. The enzyme activity in blood was not useful for diagnosis. This study helps veterinarians choose the best testing method for diagnosing this condition in Shiba dogs.
People also search for: Shiba dog G(M1)-gangliosidosis symptoms · dog genetic testing for gangliosidosis · beta-galactosidase test in dogs
Abstract
In the present study, diagnostic methods for canine G(M1)-gangliosidosis were examined by comparing a DNA mutation assay with an enzyme assay. Sixty-two Shiba dogs of a pedigree with G(M1)-gangliosidosis were differentiated into 3 genotypes, i.e., normal, heterozygous, and homozygous affected dogs, using a DNA mutation assay, which consists of polymerase chain reaction amplification and the determination of restriction fragment length polymorphisms. The beta-galactosidase activity in leukocytes, umbilical cords, and plasma was measured using 4-methylumbelliferyl beta-D-galactoside and p-nitrophenyl beta-D-galactoside as artificial substrates and compared among the 3 genotypes. The results showed that it was possible to identify homozygous dogs with the enzyme assay using leukocytes and umbilical cords. When using leukocytes, heterozygous carriers could be differentiated from normal dogs in many cases. However, the use of the DNA mutation assay is essential for a complete determination of heterozygous carriers because of the overlap in the distribution of enzyme activity between these 2 groups. When umbilical cords were used, heterozygous carriers could not be differentiated from normal dogs because of no significant difference in enzyme activity between these 2 groups. The beta-galactosidase activity in plasma was not applicable to the diagnosis and genotyping of G(M1)-gangliosidosis in Shiba dogs.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/15305740/