Application of MLPA assay to characterize unsolved α-globin gene rearrangements.

  title={Application of MLPA assay to characterize unsolved α-globin gene rearrangements.},
  author={Alessia Colosimo and Valentina Gatta and Valentina Guida and Eleonora Leodori and Enrica Foglietta and Silvana Rinaldi and Maria Pia Cappabianca and Antonio Amato and Liborio Stuppia and Bruno Dallapiccola},
  journal={Blood cells, molecules & diseases},
  volume={46 2},
α-thalassemia belongs to those inherited diseases in which large genomic deletions/duplications represent a significant proportion of causative mutations. Until recently, large α-globin gene cluster rearrangements have been mainly detected by gap-PCR and Southern blotting, methods that have significant drawbacks. We tested the recently developed multiplex ligation-dependent probe amplification (MLPA) assay for deletional screening of the α-globin gene cluster in a cohort of 25 individuals… CONTINUE READING