Direct evidence for suppression of recombination within two pericentric inversions in humans: a new sperm-FISH technique

Am J Hum Genet. 1998 Jul;63(1):218-24. doi: 10.1086/301900.

Abstract

Crossover within a pericentric inversion produces reciprocal recombinant chromosomes that are duplicated/deficient for all chromatin distal to the breakpoints. In view of this fact, a new technique is presented for estimating the frequency of recombination within pericentric inversions. YAC probes were selected from within the q- and p-arm flanking regions of two human inversions, and two-color FISH analysis was performed on sperm from heterozygous inversion carriers. A total of 6,006 sperm were analyzed for chromosome 1 inversion (p31q12), and 3,168 were analyzed for chromosome 8 inversion (p23q22). Both inversions displayed suppression of crossing-over, although the amount of suppression differed between the two inversions. The recombination frequency of 13.1% recorded for chromosome 8 inversion was similar to the frequency of 11.4% previously estimated by the human/hamster-fusion method. For chromosome 1 inversion, the recombination frequency of 0. 4% reported here was below the limits of detection of the fusion technique. The simplicity of the FISH technique and the ease of scoring facilitate analysis of a sample-population size much larger than previously had been possible.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Cell Fusion / genetics
  • Chromosome Banding
  • Chromosome Breakage / genetics
  • Chromosome Inversion*
  • Chromosomes / genetics*
  • Chromosomes, Artificial, Yeast / genetics
  • Chromosomes, Human, Pair 1 / genetics
  • Chromosomes, Human, Pair 8 / genetics
  • Cricetinae
  • Crossing Over, Genetic / genetics
  • Heterozygote
  • Humans
  • In Situ Hybridization, Fluorescence / methods*
  • Male
  • Recombination, Genetic / genetics*
  • Spermatozoa / pathology