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

Veterinary Clinical Pathology

Volumn 35, Issue 1, 2006, Pages 91-94

  Yamato, Osamu ^a   Jo, Eun Og ^a   Satoh, Hiroyuki ^a   Yamauchi, Toyofumi ^a   Kobayashi, Asogi ^a   Yamasaki, Masahiro ^a   Maede, Yoshimitsu ^a  

^a HOKKAIDO UNIVERSITY   (Japan)

Author keywords

galactosidase deficiency; Amnion; GM1 gangliosidosis; Lysosomal storage disease; Placenta; Shiba Inu

Indexed keywords

BETA GALACTOSIDASE;

AMNION; ANIMAL; ANIMAL DISEASE; ARTICLE; DIAGNOSTIC ERROR; DOG; DOG DISEASE; ENZYMOLOGY; GENETICS; GENOTYPE; GM1 GANGLIOSIDOSIS; METABOLISM; NEWBORN; PATHOLOGY; PEDIGREE; PLACENTA; RISK; UMBILICAL CORD;

AMNION; ANIMALS; ANIMALS, NEWBORN; BETA-GALACTOSIDASE; DIAGNOSTIC ERRORS; DOG DISEASES; DOGS; GANGLIOSIDOSIS, GM1; GENOTYPE; PEDIGREE; PLACENTA; RISK; UMBILICAL CORD;

ANIMALIA; CANIS FAMILIARIS;

EID: 33645780851     PISSN: 02756382     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1939-165X.2006.tb00094.x     Document Type: Article

References (13)

1. Suzuki Y, Oshima A, Nanba E. β-Galactosidase deficiency (β-galactosidosis): GM1 gangliosidosis and Morquio B disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001:3775-3809.
2. Yamato O, Ochiai K, Masuoka Y, et al. GM1 gangliosidosis in shiba dogs. Vet Rec. 2000;146:493-496.
3. Tanaka H, Nakayama M, Sugiyama Y, Yamato O. GM1 gangliosidosis diagnosed on the basis of assay of leukocytic lysosomal-enzyme activity in a Shiba-breed dog [in Japanese with English summary]. J Jpn Vet Med Assoc. 2001;54:625-627.
4. Yamato O, Masuoka Y, Yonemura M, et al. Clinical and clinicopathologic characteristics of Shiba dogs with a deficiency of lysosomal acid β-galactosidase: a canine model of human GM1 gangliosidosis. J Vet Med Sci. 2003;65:213-217.
5. Yamato O, Endoh D, Kobayashi A, et al. A novel mutation in the gene for canine acid β-galactosidase that causes GM1-gangliosidosis in Shiba dogs. J Inherit Metab Dis. 2002;25:525-526.
6. Yamato O, Kobayashi A, Satoh H, et al. Comparison of polymerase chain reaction-restriction fragment length polymorphism assay and enzyme assay for diagnosis of GM1-gangliosidosis in Shiba dogs. J Vet Diagn Invest. 2004;16:299-304.
7. Yamato O, Jo EO, Shoda T, Yamasaki M, Maede Y. Rapid and simple mutation screening of GM1 gangliosidosis in Shiba dogs by direct amplification of deoxyribonucleic acid from various forms of canine whole-blood specimens. J Vet Diagn Invest. 2004;16:469-472.
8. Suzuki K. Enzymic diagnosis of sphingolipidoses. Methods Enzymol. 1978;50:456-488.
9. Wang ZH, Zeng B, Shibuya H, et al. Isolation and characterization of the normal canine β-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis. J Inherit Metab Dis. 2000;23:593-606.
10. Kreutzer R, Leeb T, Müller G, Moritz A, Baumgärtner W. A duplication in the canine β-galactosidase gene GLB1 causes exon skipping and GM1-gangliosidosis in Alaskan Huskies. Genetics. 2005;170:1857-1861.
11. Wynn RM, Corbett JR. Ultrastructure of the canine placenta and amnion. Am J Obstet Gynecol. 1969;103:878-887.
12. Warren CD, Alroy J, Bugge B, et al. Oligosaccharides from placenta: early diagnosis of feline mannosidosis. FEBS Lett. 1986;195:247-252.
13. Nishimura N, Nakayama T, Tonoike H, et al. Direct polymerase chain reaction from whole blood without DNA isolation. Ann Clin Biochem, 2000;37:674-680.