title: Mapping of a cerebellar degeneration related protein and DXS304 around the fragile site.
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.
authors.affiliation: Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, England.
authors.forename: M C
authors.initials: MC
authors.lastname: Hirst
authors.forename: M V
authors.initials: MV
authors.lastname: Bell
authors.forename: R N
authors.initials: RN
authors.lastname: MacKinnon
authors.forename: J E
authors.initials: JE
authors.lastname: Watson
authors.forename: D
authors.initials: D
authors.lastname: Callen
authors.forename: G
authors.initials: G
authors.lastname: Sutherland
authors.forename: N
authors.initials: N
authors.lastname: Dahl
authors.forename: M N
authors.initials: MN
authors.lastname: Patterson
authors.forename: C
authors.initials: C
authors.lastname: Schwartz
authors.forename: D
authors.initials: D
authors.lastname: Ledbetter
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D015342:DNA Probes; D015252:Deoxyribonucleases, Type II Site-Specific; D005819:Genetic Markers; D006801:Humans; D008969:Molecular Sequence Data; D016532:Mucopolysaccharidosis II / Q000235:genetics; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D013132:Spinocerebellar Degenerations / Q000235:genetics*; D014960:X Chromosome
chemical_list: D015342:DNA Probes; D005819:Genetic Markers; D004247:DNA; D015252:Deoxyribonucleases, Type II Site-Specific; C040158:GTAC-specific type II deoxyribonucleases