Evidence of chromosomal inversion using fluorescence in situ hybridization to stretched DNA.
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.
Unité U434 de l'Inserm et SD401 n(o) 434 du CNRS, Institut de génétique moléculaire, Paris, France.
F
F
Salomon-Nguyen
M
M
Le Coniat-Busson
R
R
Heilig
D
D
Campion
J
J
Weissenbach
R
R
Berger
D017668:Age of Onset; D000544:Alzheimer Disease / Q000235:genetics*; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14; D004247:DNA / Q000235:genetics*; D005819:Genetic Markers; D005821:Genetic Techniques; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009690:Nucleic Acid Conformation
D005819:Genetic Markers; D004247:DNA