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Two polymorphic dinucleotide repeats in intron 44 of the dystrophin gene

  • DNA Variants
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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.

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Authors and Affiliations

  1. Institut für Humangenetik, Westfälische Wilhelms Universität, D-48149, Münster, Germany

    Silvia Köchling, Bernd Dworniczak & Jürgen Horst

  2. Department of Human Genetics, Sylvius Laboratory, Leiden University, 2333, AL Leiden, The Nederlands

    Johan T. den Dunnen

Authors
  1. Silvia Köchling
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  2. Johan T. den Dunnen
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  3. Bernd Dworniczak
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  4. Jürgen Horst
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Köchling, S., den Dunnen, J.T., Dworniczak, B. et al. Two polymorphic dinucleotide repeats in intron 44 of the dystrophin gene. Hum Genet 95, 475–477 (1995). https://doi.org/10.1007/BF00208985

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  • DOI: https://doi.org/10.1007/BF00208985

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