Human Genetics

, Volume 95, Issue 4, pp 475–477

Two polymorphic dinucleotide repeats in intron 44 of the dystrophin gene

  • Silvia Köchling
  • Johan T. den Dunnen
  • Bernd Dworniczak
  • Jürgen Horst
DNA Variants

DOI: 10.1007/BF00208985

Cite this article as:
Köchling, S., den Dunnen, J.T., Dworniczak, B. et al. Hum Genet (1995) 95: 475. doi:10.1007/BF00208985

Abstract

Duchenne muscular dystrophy (DMD) is one of the most common and severe X-linked disorders with an incidence of approximately 1 in 3500 newborn males. In more than 60% of DMD patients, deletions of part or all of the dystrophin gene have been shown. Despite this, carrier detection still poses a problem in some cases, because of the enormous size of the gene and the lack of sufficient numbers of informative markers. Here, we report the isolation and characterization of two additional microsatellite markers (IVS44SK12 and IVS44SK21) in intron 44 of the dystrophin gene. Both markers are useful for carrier detection either by indirect DNA analysis or by direct proof of loss of heterozygosity.

Copyright information

© Springer-Verlag 1995

Authors and Affiliations

  • Silvia Köchling
    • 1
  • Johan T. den Dunnen
    • 2
  • Bernd Dworniczak
    • 1
  • Jürgen Horst
    • 1
  1. 1.Institut für Humangenetik, Westfälische Wilhelms UniversitätMünsterGermany
  2. 2.Department of Human GeneticsSylvius Laboratory, Leiden UniversityAL LeidenThe Nederlands