Human Genetics

, Volume 95, Issue 4, pp 475–477 | Cite as

Two polymorphic dinucleotide repeats in intron 44 of the dystrophin gene

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

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.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Beggs AH, Kunkel LM (1990) A polymorphic CACA repeat in the 3′ untranslated region of dystrophin. Nucleic Acids Res 18:1931Google Scholar
  2. Clemens PR, Fenwick RG, Chamberlain JS, Gibbs RA, Andrade M de, Chakraborty R, Caskey CT (1991) Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am J Hum Genet 49:951–960Google Scholar
  3. Feener CA, Boyce FM, Kunkel LM (1991) Rapid detection of CA polymorphisms in cloned DNA: application to the 5′ region of the dystrophin gene. Am J Hum Genet 48:621–627Google Scholar
  4. Grootscholten PM, Dunnen JT den, Monaco AP, Anand R, van Ommen GJB (1991) YAC mapping strategies applied to the DMD-gene. Technique 3:41–50Google Scholar
  5. Koenig M, Hoffmann EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM (1987) Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50:509–517Google Scholar

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

Personalised recommendations