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An informative polymorphism detectable by polymerase chain reaction at the 3′ end of the dystrophin gene

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Summary

A fragment that contains a (CA)n sequence from the 3′ untranslated region of the dystrophin gene can be amplified by the polymerase chain reaction and shows length polymorphism in a Caucasian population. The two common alleles differ by 4bp. This new genetic marker has a heterozygosity of about 35% and is typed more rapidly than a conventional restriction fragment length polymorphism. Its localisation at the 3′ end of the dystrophin gene makes it a useful tool for diagnostic applications in families with Duchenne/ Becker muscular dystrophy, and for the analysis of intragenic recombination.

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Authors and Affiliations

  1. Faculté de Médecine, Laboratoire de Génétique Moléculaire des Eucaryotes du CNRS, Unité 184 de Biologie Moléculaire et de Génie Génétique de l'INSERM, Institut de Chimie Biologique, 11 Rue Humann, F-67085, Strasbourg Cedex, France

    C. Oudet, R. Heilig & J. L. Mandel

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  1. C. Oudet
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  2. R. Heilig
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  3. J. L. Mandel
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Oudet, C., Heilig, R. & Mandel, J.L. An informative polymorphism detectable by polymerase chain reaction at the 3′ end of the dystrophin gene. Hum Genet 84, 283–285 (1990). https://doi.org/10.1007/BF00200576

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  • DOI: https://doi.org/10.1007/BF00200576

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