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Human Genetics

, Volume 87, Issue 1, pp 73–80 | Cite as

Localisation of the myotonic dystrophy locus to 19q13.2–19q13.3 and its relationship to twelve polymorphic loci on 19q

  • Helen G. Harley
  • Kate V. Walsh
  • Shelley Rundle
  • J. David Brook
  • Manssor Sarfarazi
  • Manuela C. Koch
  • Jo L. Floyd
  • Peter S. Harper
  • Duncan J. Shaw
Original Investigations

Summary

The order of fourteen polymorphic markers localised to the long arm of human chromosome 19 has been established by multipoint mapping in a set of 40 CEPH (Centre d'Étude de Polymorphisme Humain, Paris) reference families. We report here the linkage relationship of the myotonic dystrophy (DM) locus to twelve of these markers as studied in 45 families with DM. The resulting genetic map is supported by the localisation of the DNA markers in a panel of somatic cell hybrids. Ten of the twelve markers have been shown to be proximal to the DM gene and two, PRKCG and D19S22, distal but at distances of approximately 25 cM and 15 cM, respectively. The closest proximal markers are APOC2 (apolipoprotein C-II) and CKM (creatine kinase, muscle) approximately 3 cM and 2 cM from the DM gene respectively, in the order APOC2-CKM-DM. The distance between APOC2, CKM and DM (of the order of 2 million base pairs) and their known orientation should permit directional chromosome walking and jumping. The data presented here should enable us to determine whether or not new markers are distal to APOC2/CKM and thus potentially flank the DM gene.

Keywords

Creatine Somatic Cell Creatine Kinase Human Chromosome Polymorphic Locus 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1991

Authors and Affiliations

  • Helen G. Harley
    • 1
  • Kate V. Walsh
    • 1
  • Shelley Rundle
    • 1
  • J. David Brook
    • 1
  • Manssor Sarfarazi
    • 1
  • Manuela C. Koch
    • 1
  • Jo L. Floyd
    • 1
  • Peter S. Harper
    • 1
  • Duncan J. Shaw
    • 1
  1. 1.Institute of Medical GeneticsUniversity of Wales College of MedicineHeath Park, CardiffUK

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