title: Genotyping for known Mediterranean alpha-thalassemia point mutations using a multiplex amplification refractory mutation system.
abstract: We report the conditions of a multiplex-amplifiction refractory mutation system (ARMS) for genotyping for nine assay for the detection of alpha1 Hb J-Oxford and -alpha3.7 -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.
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Lacerra
authors.forename: Gennaro
authors.initials: G
authors.lastname: Musollino
authors.forename: Francesca
authors.initials: F
authors.lastname: Di Noce
authors.forename: Romeo
authors.initials: R
authors.lastname: Prezioso
authors.forename: Clementina
authors.initials: C
authors.lastname: Carestia
mesh_terms: D000483:Alleles; D000740:Anemia / Q000235:genetics; D004252:DNA Mutational Analysis; D004587:Electrophoresis, Agar Gel; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D009154:Mutation; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000295:instrumentation* / Q000379:methods*; D017085:alpha-Thalassemia / Q000175:diagnosis* / Q000235:genetics*