Mapping of a cerebellar degeneration related protein and DXS304 around the fragile site
- 1 February 1991
- journal article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 38 (2-3), 354-356
- https://doi.org/10.1002/ajmg.1320380238
Abstract
We have localized the gene encoding a cerebellar degeneration related (CDR) protein to a region proximal to the fragile site close to DXS98 and DXS105. This gene is polymorphic with the enzyme RsaI and therefore also provides a new genetic marker in this region. We have refined the localization of the locus DXS304 distal to the breakpoint in a patient suffering from Hunter disease. This confirms the localization of DXS304 distal to the fragile site previously suggested by linkage studies and localizes the fragile X mutation to a relatively small region between the Hunter breakpoint and the breakpoint in another hybrid B17.Keywords
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