Physical and genetic mapping of a novel chromosome 19 ERCC1 marker showing close linkage with myotonic dystrophy

Genomics. 1991 Mar;9(3):500-4. doi: 10.1016/0888-7543(91)90416-c.

Abstract

Recent genetic linkage analyses have mapped the myotonic dystrophy locus to the region of 19q13.2-13.3 lying distal to the gene for creatine kinase subunit M (CKM). The human excision repair gene ERCC1 has also been mapped to this region of chromosome 19. A novel polymorphic DNA marker, pEO.8, has been isolated from a chromosome 19 ERCC1-containing cosmid that maps to a 300-kb NotI fragment encompassing both CKM and ERCC1. Genetic linkage analysis reveals close linkage between pEO.8 and myotonic dystrophy (DM) (zmax = 19.3, theta max = 0.01). Analysis of two key recombinant events suggests a mapping of DM distal to pEO.8 and CKM.

Publication types

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

MeSH terms

  • Blotting, Southern
  • Kanada
  • Chromosome Mapping
  • Chromosomes, Human, Pair 19*
  • Creatine Kinase / genetics
  • DNA Probes
  • DNA Repair / genetics*
  • Genetic Linkage
  • Genetic Markers / genetics*
  • Humans
  • Myotonic Dystrophy / genetics*
  • Niederlande
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Recombination, Genetic

Substances

  • DNA Probes
  • Genetic Markers
  • Creatine Kinase