Tight linkage of creatine kinase (CKMM) to myotonic dystrophy on chromosome 19

Neurology. 1990 Feb;40(2):222-6. doi: 10.1212/wnl.40.2.222.

Abstract

The myotonic dystrophy (DM) gene is localized to the proximal long arm of chromosome 19. There have been reports of tight linkage to a number of chromosome 19 markers, including APOC2 and creatine kinase muscle type (CKMM), but they did not establish orientation of the 2 markers to DM. We screened several large multi-generational DM families for linkage to a series of chromosome 19 markers including CKMM. CKMM is tightly linked to DM in these data with z(theta) = 28.41; theta = 0.01. Analysis of cross-over data indicates CKMM is on the same side and closer to DM than APOC2. Thus, CKMM is a useful probe for carrier detection studies in presymptomatic individuals as well as for prenatal diagnosis.

Publication types

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

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 19*
  • Creatine Kinase / genetics*
  • Crossing Over, Genetic / genetics
  • Female
  • Genetic Linkage / genetics*
  • Humans
  • Lod Score
  • Male
  • Muscles / enzymology
  • Myotonic Dystrophy / enzymology
  • Myotonic Dystrophy / genetics*
  • Pedigree

Substances

  • Creatine Kinase