Haematologica (Feb 2007)

Genotyping for known Mediterranean α-thalassemia point mutations using a multiplex amplification refractory mutation system

  • Giuseppina Lacerra,
  • Gennaro Musollino,
  • Francesca Di Noce,
  • Romeo Prezioso,
  • Clementina Carestia

DOI
https://doi.org/10.3324/haematol.10736
Journal volume & issue
Vol. 92, no. 2

Abstract

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We report the conditions of a multiplex-amplifiction refractory mutation system (ARMS) for genotyping for nine known mutations of the α2-globin gene and of the ARMS assay for the detection of α1 Hb J-Oxford and −α3.7 -AC. The method is reproducible, reliable, simple, rapid, inexpensive and provides genotype diagnosis in >70% of point-mutation carriers in Mediterranean countries. Moreover, it allows investigation of the structure of mutated alleles by sequencing ARMS-amplicons.