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      Permanent link:
      https://www.ias.ac.in/article/fulltext/jgen/095/02/0325-0329

    • Keywords

       

      Duchenne and Becker muscular dystrophy; neuromuscular disorder; point mutation

    • Abstract

       

      Duchenne and Becker muscular dystrophies (DMD and BMD) are X-linked neuromuscular diseases characterized by progres-sive muscular weakness and degeneration of skeletal muscles. Approximately two-thirds of the patients have large deletionsor duplications in the dystrophin gene and the remaining one-third have point mutations. This study was performed to eval-uate point mutations in Iranian DMD/BMD male patients. A total of 29 DNA samples from patients who did not show anylarge deletion/duplication mutations following multiplex polymerase chain reaction (PCR) and multiplex ligation-dependentprobe amplification (MLPA) screening were sequenced for detection of point mutations in exons 50–79. Also exon 44 wassequenced in one sample in which a false positive deletion was detected by MLPA method. Cycle sequencing revealed fournonsense, one frameshift and two splice site mutations as well as two missense variants

    • Author Affiliations

       

      MARYAM HAGHSHENAS1 MOHAMMAD TAGHI AKBARI2 3 SHOHREH ZARE KARIZI3 4 FARAVAREH KHORDADPOOR DEILAMANI3 5 SHAHRIAR NAFISSI6 ZIVAR SALEHI1

      1. Faculty of Sciences, Department of Biology, University of Guilan, Rasht 4199613776, Iran
      2. Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran 14115-111, Iran
      3. Tehran Medical Genetics Laboratory, No. 251, Taleghani Street, Tehran 1598618133, Iran
      4. Department of Biology, Varamin Pishva Branch, Azad University, Varamin Pishva 7489-33817, Iran
      5. Department of Biology, Science and Research Branch, Islamic Azad University, Tehran 1477892855, Iran
      6. Department of Neurology, Tehran University of Medical Sciences (TUMS), Tehran 1417614418, Iran
    • Dates

       
  • Journal of Genetics | News

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