Genotyping for known Mediterranean -thalassemia point mutations using a multiplex amplification refractory mutation system
2007; Ferrata Storti Foundation; Volume: 92; Issue: 2 Linguagem: Inglês
10.3324/haematol.10736
ISSN1592-8721
AutoresGiuseppina Lacerra, Gennaro Musollino, Francesca Di Noce, Romeo Prezioso, Clementina Carestia,
Tópico(s)Iron Metabolism and Disorders
ResumoWe 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.
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