Evidence of chromosomal inversion using fluorescence in situ hybridization to stretched DNA

C R Acad Sci III. 1998 Jun;321(6):447-52. doi: 10.1016/s0764-4469(98)80775-0.

Abstract

The resolution of fluorescence in situ hybridization techniques (FISH) can be improved using techniques of DNA stretching. The so-called DIRVISH technique has been used to demonstrate the existence of an inversion involving a small chromosomal segment of the long arm of chromosome 14. This inversion was suspected, but not proven, in patients with familial Alzheimer disease. Two-colour FISH using YAC and cosmid probes allowed us to limit the rearranged region around YAC 964e2, which encompasses the Presenilin 1 (PR1) gene. The existence of small-sized inversions within the genome becomes, thus, open to microscope analysis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Alzheimer Disease / genetics*
  • Chromosome Inversion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 14*
  • DNA / genetics*
  • Genetic Markers
  • Genetic Techniques
  • Humans
  • In Situ Hybridization, Fluorescence
  • Nucleic Acid Conformation

Substances

  • Genetic Markers
  • DNA