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Formerly Journal of Turgut Ozal Medical Center - ISSN 1300-1744

  • Annals of Medical Research



    Annals of Medical Research International Monthly Published Medical Journal

  • Annals of Medical Research

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  • Annals of Medical Research


    Annals of Medical Research indexed in TÜBİTAK/ULAKBİM Tıp Veri Tabanı

  • Annals of Medical Research


    Annals of Medical Research indexed in

  • Annals of Medical Research
  • Annals of Medical Research
  • Annals of Medical Research
  • Annals of Medical Research

Dear readers,

Our journal is the official publication of Inonu University Medical Faculty and published uninterruptedly for 25 years. It was first published as the name of Inonu University Medical Journal and later as Journal of Turgut Ozal Medical Center. During its publication period, the journal accepted Turkish or English articles for publication.

Abstracting in an international index is just a paramount objective in the 25th year of the journal. Because of this goal, it was necessary to make a decision both in terms of journal name and publication language. It was important in this respect that the name of a general medical journal should be related to medicine again and it should be in English. For these reasons, the name of the journal was switched to Annals of Medical Research and its publication language is changed to in English. The logo of the journal was chosen as an apricot, which is the symbol of our city Malatya, the world capital of apricot. I hope the journal succeeds with its new name. Annals of Medical Research is It is published monthly.

Editor-in-Chief
Cuneyt Kayaalp

 

Detection of duchene muscular dystrophy carriers with quantitative fluorescent polymerase chain reaction  (p. 1755-60)

Detection of duchene muscular dystrophy carriers with quantitative fluorescent polymerase chain reaction (p. 1755-60)

Aysegul Kuskucu1, Nur Buyru2, Piraye Oflazer3, Seniha Hacihanefioglu1
1Yeditepe University, Faculty of Medicine, Department of Medical Genetics, Istanbul, Turkey
2Istanbul University Cerrahpsa, Cerrahpasa Faculty of Medicine, Department of Medical Biology, Istanbul, Turkey
3Koc University, Faculty of Medicine, Department of Neurology, Istanbul, Turkey

Abstract

Aim: Duchenne Muscular Dystrophy (DMD) is an X-linked, progressive, lethal neuromuscular disorder affecting 1/3500 live-born males. Mutations occur in the dystrophin gene, which is located at Xp21.2. Partial gene deletions occur in two “hot-spot” regions, and can be responsible for up to 60-65% DMD cases, while 5-10% of the cases are caused from clustered gene duplications. Mutations can be inherited from female carriers (2/3) or be de-novo mutations (1/3). Deletions can be easily detected in affected males via multiplex PCR or MLPA. On the contrary, determining the status of female carriers is difficult. The aim of this study is to optimize the gene-dosage method using quantitative fluorescent PCR.
Material and Methods: Fluorescently labeled primers are used for amplification and automated detection of amplicons and are designed in multiplex format. The primers contain eighteen exons located within “hot-spot” regions. A promoter region and STR markers are also included in the test as internal controls and for linkage analysis. This is followed by a PCR automated genetic analyzer for the detection of PCR products. This study includes twenty-four families, each with a previously diagnosed member.
Results: Results showed the same correlation as was previously reported in nineteen patients, whereas three patients had an extra exon deletion and one patient had one less exon deletion than previously reported. In nineteen families, the mothers were carriers, and in five families, the mothers were not carriers.
Conclusion: As a conclusion for carrier screening in DMD patients, quantitative fluorescent PCR is a fast, reproducible and robust method can be used for detection of deletions.

Keywords: Duchenne muscular dystrophy; quantitative fluorescent PCR; carrier screening.

 

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doi: 10.5455/annalsmedres.2019.08.459

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Annals of Medical Research is the scientific official journal of the Inonu University Faculty of Medicine. It is published monthly. The essential aim of the Annals of Medical Research is to publish scientifically high quality clinical and experimental research articles on fields of medicine which can contribute to the literature data. In addition, review articles, case reports, editorials, letters to the editors and manuscripts on publication ethics and medical history, which can contribute to the education and practices of physicians and health sector professionals within the scope of the journal’s target audience and which can increase the level of scientific communication between the authors and readers, are included in the scope of the journal.

 

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