Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome

Hum Genet. 1992 Nov;90(3):243-6. doi: 10.1007/BF00220070.

Abstract

Employing a modified Goss-Harris irradiation fusion protocol, we have generated a panel of somatic cell hybrids containing various overlapping fragments of the Xcen-Xp11.4 interval. This region of the human X chromosome is known to carry genes for several hereditary eye diseases including retinitis pigmentosa (RP2), congenital stationary night blindness (CSNB-1) and Norrie disease. These hybrid cell lines were employed to isolate 17 new DNA probes by making use of the Alu polymerase chain reaction (PCR) method and subsequent cloning of the PCR products in a plasmid vector. With these probes, we have characterized two previously described microdeletions spanning the Norrie locus; these deletions have enabled us to subdivide the Xp11.4-p11.3 region into three defined intervals.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Chromosome Mapping
  • Cricetinae
  • Cricetulus
  • DNA Probes / isolation & purification*
  • DNA, Single-Stranded
  • Humans
  • Hybrid Cells*
  • In Situ Hybridization, Fluorescence
  • Molecular Sequence Data
  • Plasmids
  • Polymerase Chain Reaction
  • X Chromosome*

Substances

  • DNA Probes
  • DNA, Single-Stranded