Characterization of alpha thalassemic genotypes by multiplex ligation-dependent probe amplification in the Brazilian population.

@article{Suemasu2011CharacterizationOA,
  title={Characterization of alpha thalassemic genotypes by multiplex ligation-dependent probe amplification in the Brazilian population.},
  author={Cintia N Suemasu and Elza Miyuki Kimura and Denise Madureira de Oliveira and Marcos Andr{\'e} Cavalcanti Bezerra and Aderson da Silva Ara{\'u}jo and Fernando F. Costa and Maria de F{\'a}tima Sonati},
  journal={Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas},
  year={2011},
  volume={44 1},
  pages={16-22}
}
Alpha-thalassemia is the most common inherited disorder of hemoglobin synthesis. Genomic deletions involving the alpha-globin gene cluster on chromosome 16p13.3 are the most frequent molecular causes of the disease. Although common deletions can be detected by a single multiplex gap-PCR, the rare and novel deletions depend on more laborious techniques for their identification. The multiplex ligation-dependent probe amplification (MLPA) technique has recently been used for this purpose and was… CONTINUE READING