Construction of a genetic linkage map in man using restriction fragment length polymorphisms

Am J Hum Genet. 1980 May;32(3):314-31.


We describe a new basis for the construction of a genetic linkage map of the human genome. The basic principle of the mapping scheme is to develop, by recombinant DNA techniques, random single-copy DNA probes capable of detecting DNA sequence polymorphisms, when hybridized to restriction digests of an individual's DNA. Each of these probes will define a locus. Loci can be expanded or contracted to include more or less polymorphism by further application of recombinant DNA technology. Suitably polymorphic loci can be tested for linkage relationships in human pedigrees by established methods; and loci can be arranged into linkage groups to form a true genetic map of "DNA marker loci." Pedigrees in which inherited traits are known to be segregating can then be analyzed, making possible the mapping of the gene(s) responsible for the trait with respect to the DNA marker loci, without requiring direct access to a specified gene's DNA. For inherited diseases mapped in this way, linked DNA marker loci can be used predictively for genetic counseling.

Publication types

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

MeSH terms

  • Chromosome Deletion
  • Chromosome Mapping*
  • Chromosomes, Human*
  • DNA / chemical synthesis
  • DNA Restriction Enzymes
  • DNA, Recombinant
  • Genetic Linkage*
  • Genetic Markers
  • Genetic Testing
  • Humans
  • Models, Genetic
  • Nucleic Acid Hybridization
  • Pedigree
  • Polymorphism, Genetic*


  • DNA, Recombinant
  • Genetic Markers
  • DNA
  • DNA Restriction Enzymes