@article{article_387893, title={Evaluation of dystrophin gene deletion patterns in a large Duchenne/Becker muscular dystrophy patient sample; 17 years experience from one Turkish Diagnostic Center}, journal={Deneysel Tıp Araştırma Enstitüsü Dergisi}, volume={7}, pages={50–61}, year={2017}, author={Poda, Mehveş and Güçlü Geyik, Filiz and Çoban, Neslihan and Tüysüz, Beyhan and Güven, Gamze and Kömürcü Bayrak, Evrim and Erginel Unaltuna, Nihan}, keywords={Dystrophin,Gene Deletion,Duchenne-Becker Muscular Dystrophy}, abstract={<p>Background: Duchenne/Becker muscular dystrophy (DMD/BMD) is an X-linked recessive disease <br />results from mutations in the dystrophin gene. We established the deletion pattern profile in unrelated <br />DMD/BMD patients using multiplex PCR (M-PCR). Methods: During 1998-2015, 1,385 unrelated <br />Deletion <br />analysis in the dystrophin(DMD) gene was performed.Results: Of all patients admitted, 42.6% deletion <br />carriers (n=589) were detected, of which 180 (80.3 %)were carrying single exon deletions and 409 (14.8 <br />%) multiple exon deletions. Deletions covering the major hotspot region were 80.3 %, the minor region <br />14.8% and 2.4% covered both regions. The mean age of diagnosis of patients with out-of-frame <br />deletions (7.27 year) was notably lower than the cases with in frame deletions (17.54 year). No single <br />exon 4 deletion was detected.Conclusions: When the known deletion hotspots are considered, the <br />study population showed a similar deletion pattern with other populations. The mean age of patients with <br />out-of-frame deletions were lower than mean age of those with in-frame deletions, in concordance with <br />the reading frame hypothesis. Strikingly, no single exon 4 deletion was found, supporting the hypothesis <br />that absence of it might have no functional consequences <br /> </p>}, number={14}, publisher={Istanbul University}