Mapping dystrophin gene recombinants in Greek DMD/BMD families: low recombination frequencies in the STR region |
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Authors: | Lina Florentin Chrysanthy Bili Kiriaki Kekou Nicolaos Tripodis Ariadni Mavrou Catherine Metaxotou |
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Affiliation: | (1) Genetic Unit, 1st Department of Pediatrics, Athens University, Aghia Sophia Children's Hospital, GR-11527 Athens, Greece |
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Abstract: | A systematic study of 42 Greek DMD/BMD families using 14 polymorphic markers that span the dystrophin gene was performed in order to assess the position and frequency of recombinants in the Greek population and to test whether hot spots of recombination and deletions coincide when exclusively studying DMD/BMD families. We report a low percentage of recombination between markers STR44 and STR50; otherwise, the distribution of recombination events in other parts of the gene is largely in agreement with previously published data on Centre d'Etude du Polymorphisme Humaine families. We therefore propose that recombination frequencies and the correlation between recombination and deletion hot spots should be evaluated on DMD/BMD families exclusively. |
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