Screening for the Mucopolysaccharidosis-IIIA gene in Huntaway dogs |
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| Authors: | RD Jolly AC Johnstone DE Hubbard G Yogalingam A Pollard |
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| Institution: | 1. Institute of Veterinary, Animal and Biomedical Sciences , Massey University , Palmerston North, New Zealand E-mail: R.D Jolly@massey.ac.nz;2. Equine Blood Typing and Research Centre , Massey University , Palmerston North, New Zealand E-mail: D.H.Hubbard@massey.ac.nz;3. Lysosmal Diseases Research Unit , Adelaide Women and Children's Hospital , 74 King William Rd, North Adelaide, South Australia , 5006 |
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| Abstract: | Abstract Extract A single case of the inherited lysosomal storage disease known as mucopolysaccharidosis-IIIA (MPS-IIIA), due to a deficiency of the enzyme heparan sulphatase, was reported in an 18-month-old male Huntaway dog (Jolly et al 2000 Jolly, RD, Allan, FJ, Collett, MG, Rozaklis, T, Muller, VJ and Hopwood, JJ. 2000. Mucopolysaccharidosis IIIA (Sanfilippo syndrome) in a New Zealand Huntaway dog with ataxia. New Zealand Veterinary Journal, 48: 144–148. Taylor &; Francis Online], Web of Science ®] , Google Scholar]). He had developed normally but when presented with a history of progressive ataxia over the preceding month, had a high stepping, prancing gait and difficulty in jumping into a utility vehicle. In addition, he had started to defaecate in his kennel. Following diagnosis of the enzyme deficiency, the mutant heparan sulphatase gene was sequenced and a PCR/restriction enzyme diagnostic test developed, based on the mutation. This is capable of detecting both homozygous and heterozygous individuals (Yogalingam et al 2000 Yogalingam, G, Pollard, T, Gliddon, B, Jolly, RD and Hopwood, JJ. 2001. Identification of a mutation causing mucopolysaccharidosis type IIIA in New Zealand Huntaway dogs. Genomics, 79: 150–153. Google Scholar]). |
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