Exclusion mapping of 12 X-linked disease loci and 10 DNA probes from the long arm of the X-chromosome

Clin Genet. 1990 Aug;38(2):94-104. doi: 10.1111/j.1399-0004.1990.tb03555.x.

Abstract

Specific chromosome rearrangements associated with disease entities are invaluable resources for physical mapping. A deletion on the X chromosome of a male leads to the nullisomy for X-linked genes, resulting in the onset of genetic diseases and/or the absence of the DNA probe detectable sequences. This permits the localization of these loci within the deleted area. On the other hand, the region for some other X-linked loci can be excluded from the deleted area according to the absence of the characteristic symptoms of the disease and/or the presence of the hybridization signals. An interstitial deletion on the long arm of the X chromosome of a male has been characterized by high resolution banding. The karyotype of the proband is 46,Y,del(X)(pter----q21.1::q21.33----qter). The regions for 12 X-linked disease loci as well as 10 DNA probes are excluded from the deleted area, and localized either proximally or distally to the deletion. The results also reveal a controversy in the present linkage data concerning the assignment of these loci.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child
  • Choroideremia / genetics
  • Chromosome Banding
  • Chromosome Deletion
  • Chromosome Mapping*
  • DNA Probes*
  • Female
  • Genetic Carrier Screening
  • Genetic Linkage / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Retinitis Pigmentosa / genetics
  • Sex Chromosome Aberrations / genetics*
  • X Chromosome*

Substances

  • DNA Probes