title: Progress toward positional cloning of ovine neuronal ceroid lipofuscinosis, a model of the human late-infantile variant CLN6.
abstract: The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases with severe neurodegenerative pathology. An ovine model (OCL) has well-defined parallels with the human disease at the biochemical and pathological levels. The gene for OCL is located in the chromosomal region OAR7q13-15. This region is syntenic with HAS15q21-23, suggesting that OCL and CLN6 represent mutations in orthologous genes. New microsatellite markers have been developed enabling further refinement of the OCL critical region.
authors: Molecular Biology Unit, Department of Biochemistry, University of Otago, Dunedin, New Zealand. Murray.Broom@stonebow.otago.ac.nz
authors: M F
authors: MF
authors: Broom
authors: C
authors: C
authors: Zhou
authors: D F
authors: DF
authors: Hill
mesh_terms: D000818:Animals; D018244:Chromosomes, Artificial, Yeast; D002884:Chromosomes, Human, Pair 15; D003001:Cloning, Molecular; D017931:DNA Primers; D004195:Disease Models, Animal; D008040:Genetic Linkage; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008126:Lod Score; D018895:Microsatellite Repeats; D008957:Models, Genetic; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D012756:Sheep
chemical_list: D017931:DNA Primers