A DNA polymorphism in close physical linkage with the proopiomelanocortin gene

Am J Hum Genet. 1983 Nov;35(6):1090-6.

Abstract

Cellular DNAs from a panel of 20 unrelated individuals were screened for restriction fragment length polymorphisms (RFLP) with a DNA probe containing the first exon of the proopiomelanocortin gene (POMC), which has been assigned to chromosome 2p23-25. Digestion with the restriction endonuclease Sst 1 revealed a high frequency RFLP. The two alleles that were found are fragments of 10- and 15-kilobase (kb) length and are in Hardy-Weinberg equilibrium with frequencies of 72.6% and 27.4%, respectively. Informative families were tested for linkage between POMC/Sst 1 RFLP and other polymorphic markers of chromosome 2. Linkage was excluded to AcP-1 (2p23-25) at 15% recombination, which is still consistent with the chromosomal assignments for these genes. The close physical linkage (10 kb) of the polymorphic locus to the POMC gene makes this RFLP a suitable marker for future linkage studies involving the POMC gene.

Publication types

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

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, 1-3*
  • DNA / analysis
  • DNA / genetics*
  • DNA Restriction Enzymes
  • Genes*
  • Genetic Linkage*
  • Genetic Markers
  • Humans
  • Lod Score*
  • Pituitary Hormones, Anterior / genetics*
  • Polymorphism, Genetic*
  • Pro-Opiomelanocortin
  • Protein Precursors / genetics*
  • Recombination, Genetic

Substances

  • Genetic Markers
  • Pituitary Hormones, Anterior
  • Protein Precursors
  • Pro-Opiomelanocortin
  • DNA
  • DNA Restriction Enzymes