Mapping of a cerebellar degeneration related protein and DXS304 around the fragile site

Am J Med Genet. 1991 Feb-Mar;38(2-3):354-6. doi: 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosome Mapping
  • DNA / genetics
  • DNA Probes*
  • Deoxyribonucleases, Type II Site-Specific
  • Genetic Markers
  • Humans
  • Molecular Sequence Data
  • Mucopolysaccharidosis II / genetics
  • Pedigree
  • Polymorphism, Restriction Fragment Length*
  • Spinocerebellar Degenerations / genetics*
  • X Chromosome*

Substances

  • DNA Probes
  • Genetic Markers
  • DNA
  • Deoxyribonucleases, Type II Site-Specific
  • GTAC-specific type II deoxyribonucleases