High resolution localization of recombination hot spots using sperm typing

Nat Genet. 1994 Jul;7(3):420-4. doi: 10.1038/ng0794-420.


We have applied sperm DNA typing to determine the distribution of crossover events within a one megabase region of the short arm of human chromosome 4 near the locus for Huntington disease. A total of 29 recombinants were detected among 602 sperm typed after whole genome amplification. These recombinants were typed for seven polymorphic markers. The 280 kilobase D4S10-D4S126 interval was found to undergo recombination at a 6-9-fold greater rate per unit of physical distance than the adjacent 720 kb D4S126-D4S127 interval. Sperm typing has the potential to dissect mammalian recombination hot spots to the point where DNA sequence analysis may reveal the molecular basis for hyperrecombination.

MeSH terms

  • Base Sequence
  • Chromosomes, Human, Pair 4
  • Crossing Over, Genetic*
  • DNA / genetics*
  • Genetic Markers
  • Humans
  • Huntington Disease / genetics
  • Male
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Sequence Analysis, DNA
  • Spermatozoa*


  • Genetic Markers
  • DNA