| Project/Area Number |
14560258
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Applied veterinary science
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| Research Institution | HOKKAIDO UNIVERSITY |
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Principal Investigator |
YAMATO Osamu Hokkaido Univ., Grad.School of Veterinary Med., Lec., 大学院・獣医学研究科, 講師 (80261337)
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| Co-Investigator(Kenkyū-buntansha) |
MAEDE Yoshimitsu Hokkaido Univ., Grad.School of Veterinary Med., Prof., 大学院・獣医学研究科, 教授 (40002084)
TAJIMA Motoshi Hokkaido Univ., Grad.School of Veterinary Med., Assoc.Prof., 大学院・獣医学研究科, 助教授 (90202168)
OCHIAI Kenji Hokkaido Univ., Grad.School of Veterinary Med., Assoc.Prof., 大学院・獣医学研究科, 助教授 (80214162)
YAMASAKI Masahiro Hokkaido Univ., Grad.School of Veterinary Med., Inst., 大学院・獣医学研究科, 助手 (40322846)
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| Project Period (FY) |
2002 – 2003
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| Project Status |
Completed (Fiscal Year 2003)
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| Budget Amount *help |
¥4,000,000 (Direct Cost: ¥4,000,000)
Fiscal Year 2003: ¥1,600,000 (Direct Cost: ¥1,600,000)
Fiscal Year 2002: ¥2,400,000 (Direct Cost: ¥2,400,000)
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| Keywords | lysosomal storage disease / animal model / gangliosidosis / inherited disease / molecular diagnosis / ライソゾーム病 / 蓄積病 / ガングリオシド / 疾患モデル / 犬モデル |
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| Research Abstract |
(1)Identification of canine and feline models with Sandhoff disease
We have developed a thin-layer chromatography/enzyme immuno-staining method, which can make it possible to determine the concentrations of GM2 and GM1-gangliosides in cerebrospinal fluid. Utilizing this method, canine and feline Sandhoff disease could be identified in golden retriever dogs and Japanese domestic cats, respectively. The family of Japanese domestic cats with Sandhoff disease has already been maintained as a feline Sandhoff model.
(2)Molecular analysis of Sandhoff disease in domestic animals
Although we analyzed the sequence of HEXB gene in dogs and cats with Sandhoff disease, mutations responsible for the disease have not been identified until now. On the other hand, we developed PCR-RFLP methods, which detect mutations known in other feline breeds with Sandhoff disease, and DNA in a Japanese domestic cat with Sandhoff disease was investigated using these PCR-RFLP methods. However, it was clarified that the cat does not have these known mutations.
(3)Development of simple and rapid mutation screening method for GM1-gangliosidosis in Shiba dogs
We have also developed a simple and rapid mutation screening method for GM1-gangliosidosis in Shiba dogs. In this method, a PCR-RFLP can be performed directly using various forms of whole blood specimens (whole blood, blood dried in filter paper, dry powder striped from blood smear, etc.), without the extraction step of genomic DNA. The method can be used for breeding control of the animal model and the molecular epidemiology.
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