Use of amnion and placenta in neonatal screening for canine GM1-gangliosidosis and the risk of diagnostic misclassifications

BACKGROUND: A closed breeding colony of Shiba dogs with GM1-gangliosidosis is maintained at Hokkaido University (Sapporo, Japan). Neonatal genotyping is essential to control the breeding colony genetically as an animal model for the human disease

Bibliographische Detailangaben
Veröffentlicht in:Veterinary clinical pathology. - 1975. - 35(2006), 1 vom: 01. März, Seite 91-4
1. Verfasser: Yamato, Osamu (VerfasserIn)
Weitere Verfasser: Jo, Eun-Og, Satoh, Hiroyuki, Yamauchi, Toyofumi, Kobayashi, Asogi, Yamasaki, Masahiro, Maede, Yoshimitsu
Format: Aufsatz
Sprache:English
Veröffentlicht: 2006
Zugriff auf das übergeordnete Werk:Veterinary clinical pathology
Schlagworte:Journal Article Research Support, Non-U.S. Gov't beta-Galactosidase EC 3.2.1.23
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245 1 0 |a Use of amnion and placenta in neonatal screening for canine GM1-gangliosidosis and the risk of diagnostic misclassifications 
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500 |a Date Completed 05.05.2006 
500 |a Date Revised 09.11.2019 
500 |a published: Print 
500 |a Citation Status MEDLINE 
520 |a BACKGROUND: A closed breeding colony of Shiba dogs with GM1-gangliosidosis is maintained at Hokkaido University (Sapporo, Japan). Neonatal genotyping is essential to control the breeding colony genetically as an animal model for the human disease 
520 |a OBJECTIVES: The purpose of the present study was to determine the utility of amnion and placenta in the neonatal screening or diagnosis for canine GM1-gangliosidosis 
520 |a METHODS: Twenty neonatal Shiba dogs of a pedigree with GM1- gangliosidosis were differentiated into 3 genotypes--normal, heterozygous, and affected dogs--by using a previously reported DNA mutation assay. Acid beta-galactosidase activity was measured in amnion and placenta and compared among the 3 genotypes 
520 |a RESULTS: The level of beta-galactosidase activity in the amnion of affected dogs was negligible and <2% of the mean activity in normal dogs; there was no significant difference among the 3 genotypes. In placenta, beta-galactosidase activity was significantly different among all the genotypes; however, there was wide overlap in enzyme activity between normal and heterozygous dogs. The level of activity in affected dogs was relatively high and >10% of the mean activity in normal dogs. The DNA mutation assay gave correct information about genotype with genomic DNA extracted from amnion but ambiguous information with DNA from placenta 
520 |a CONCLUSIONS: Amnion and placenta were not useful as enzyme sources in neonatal screening in canine GM1-gangliosidosis because of the risk of misdiagnosis. DNA from amnion is applicable as a template for genotyping, whereas placenta should not be used because canine placenta contains maternal cells 
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700 1 |a Jo, Eun-Og  |e verfasserin  |4 aut 
700 1 |a Satoh, Hiroyuki  |e verfasserin  |4 aut 
700 1 |a Yamauchi, Toyofumi  |e verfasserin  |4 aut 
700 1 |a Kobayashi, Asogi  |e verfasserin  |4 aut 
700 1 |a Yamasaki, Masahiro  |e verfasserin  |4 aut 
700 1 |a Maede, Yoshimitsu  |e verfasserin  |4 aut 
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