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.
Haematological and onco-haematological aspect of Gaucher disease : consensus recommendations for treatment and disease management / D. Hughes, M.D. Cappellini, M.G. Berger, J. Van Droogenbroeck, M. de Fost, D. Janic, T. Marinakis, H. Rosenbaum, J. Villarubia, E. Zhukovskaya, C. Hollak. - In: HAEMATOLOGICA. - ISSN 0390-6078. - 92:S1(2007 Oct), pp. 254-255. ((Intervento presentato al 12.. convegno Congress of the European Hematology Association tenutosi a Vienna nel 2007.
Haematological and onco-haematological aspect of Gaucher disease : consensus recommendations for treatment and disease management
M.D. CappelliniSecondo
;
2007
Abstract
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.
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