Abstract:
:We present a new method to detect the major beta-thalassaemia mutations of the Mediterranean countries (IVS I-1, IVS I-6, IVS I-110, CD-37 and CD-39). The procedure is based upon real-time polymerase chain reaction (PCR), using specific fluorescently labelled hybridization probes. The melting curves for each of the specific probes obtained after PCR enabled the identification of different alleles. Genotyping of 71 patients with thalassaemia and 20 controls without thalassaemia by the established method and conventional allele-specific restriction enzyme analysis produced identical results. The established method is a robust, fast and straightforward assay that allows detection of the major Mediterranean beta-thalassaemia mutations simultaneously in less than 60 min.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Moreno I,Bolufer P,Perez ML,Barragán E,Sanz MAdoi
10.1046/j.1365-2141.2002.03823.xsubject
Has Abstractpub_date
2002-11-01 00:00:00pages
554-7issue
2eissn
0007-1048issn
1365-2141pii
3823journal_volume
119pub_type
杂志文章abstract::The myelodysplastic syndromes (MDS) display both haematological and biological heterogeneity with variable leukaemia potential. MicroRNAs play an important role in tumour suppression and the regulation of self-renewal and differentiation of haematopoietic progenitors. Using a microarray platform, we evaluated microRNA...
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