Mapping of a cerebellar degeneration related protein and DXS304 around the fragile site.
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.
Hirst
M C
MC
Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, England.
Bell
M V
MV
MacKinnon
R N
RN
Watson
J E
JE
Callen
D
D
Sutherland
G
G
Dahl
N
N
Patterson
M N
MN
Schwartz
C
C
Ledbetter
D
D
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
D015342:DNA Probes; D005819:Genetic Markers; D004247:DNA; D015252:Deoxyribonucleases, Type II Site-Specific; C040158:GTAC-specific type II deoxyribonucleases