Analysis of candidate genes in the CLN6 critical region using in silico cloning
| Autor: | JD Sharp, John M. Joslin, Sara E. Mole, RB Wheeler, R. Mark Gardiner, Roger A. Schultz, Ruth E Williams |
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| Rok vydání: | 2001 |
| Předmět: |
Cloning
Genetics Candidate gene Chromosomes Human Pair 15 In silico Chromosome Chromosome Mapping Infant General Medicine Biology Neuronal Ceroid-Lipofuscinoses Pediatrics Perinatology and Child Health Microsatellite Humans Human genome Neurology (clinical) Cloning Molecular Gene Sequence (medicine) Microsatellite Repeats |
| Zdroj: | European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 5 |
| ISSN: | 1090-3798 |
| Popis: | CLN6, the gene for variant late infantile neuronal ceroid lipofuscinosis, was mapped to a 4 cM region on chromosome 15q22-23. Subsequently the critical region was narrowed to less than 1 cM between microsatellite markers D15S988 and D15S1000 by additional marker typing in an expanded family resource. A physical map was constructed across this region using YAC and PAC clones and sequence was generated from two PAC clones. This sequence was analysed together with overlapping sequence generated by the Human Genome Project to identify genes within the region using an in silico cloning approach. In all, 29 genes have been identified and 18 have been analysed for mutations by direct sequencing. This powerful new approach will lead to the identification of CLN6. |
| Databáze: | OpenAIRE |
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