A DNA polymorphism in close physical linkage with the proopiomelanocortin gene.
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.
D002874:Chromosome Mapping; D002900:Chromosomes, Human, 1-3; D004247:DNA / Q000032:analysis / Q000235:genetics*; D004262:DNA Restriction Enzymes; D005796:Genes; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D010908:Pituitary Hormones, Anterior / Q000235:genetics*; D011110:Polymorphism, Genetic; D011333:Pro-Opiomelanocortin; D011498:Protein Precursors / Q000235:genetics*; D011995:Recombination, Genetic
D005819:Genetic Markers; D010908:Pituitary Hormones, Anterior; D011498:Protein Precursors; D011333:Pro-Opiomelanocortin; D004247:DNA; D004262:DNA Restriction Enzymes