Progress toward positional cloning of ovine neuronal ceroid lipofuscinosis, a model of the human late-infantile variant CLN6
| Autor: | M. F. Broom, Chaoming Zhou, D. F. Hill |
|---|---|
| Rok vydání: | 1999 |
| Předmět: |
Batten disease
Positional cloning Genetic Linkage Endocrinology Diabetes and Metabolism Biology Biochemistry Endocrinology Neuronal Ceroid-Lipofuscinoses Genetics medicine Animals Humans Cloning Molecular Molecular Biology Gene Chromosomes Artificial Yeast In Situ Hybridization Fluorescence Synteny DNA Primers Chromosomes Human Pair 15 Sheep Models Genetic medicine.disease Disease Models Animal Chromosomal region Microsatellite Neuronal ceroid lipofuscinosis Lod Score Microsatellite Repeats |
| Zdroj: | Molecular genetics and metabolism. 66(4) |
| ISSN: | 1096-7192 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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