期刊
HUMAN MOLECULAR GENETICS
卷 17, 期 24, 页码 3847-3853出版社
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddn283
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资金
- Intramural Research Programs of the National Institute on Aging [1 Z01 AG000949-02]
- National Institute of Neurological Disorders and Stroke
- National Institutes of Health, Department of Health and Human Services, USA
- NINDS Competitive Postdoctoral Fellowship
- National Institute on Aging [Z01 AG000957-05]
- Pediatric Oncology Research Training Program, National Institutes of Health [2T32CA009351-29]
Spinocerebellar ataxia type 20 (SCA20) has been linked to chromosome 11q12, but the underlying genetic defect has yet to be identified. We applied single-nucleotide polymorphism genotyping to detect structural alterations in the genomic DNA of patients with SCA20. We found a 260 kb duplication within the previously linked SCA20 region, which was confirmed by quantitative polymerase chain reaction and fiber fluorescence in situ hybridization, the latter also showing its direct orientation. The duplication spans 10 known and 2 unknown genes, and is present in all affected individuals in the single reported SCA20 pedigree. While the mechanism whereby this duplication may be pathogenic remains to be established, we speculate that the critical gene within the duplicated segment may be DAGLA, the product of which is normally present at the base of Purkinje cell dendritic spines and contributes to the modulation of parallel fiber-Purkinje cell synapses.
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