Genotyping for known Mediterranean -thalassemia point mutations using a multiplex amplification refractory mutation system
| Autor: | Gennaro Musollino, Romeo Prezioso, Giuseppina Lacerra, Clementina Carestia, Francesca Di Noce |
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| Rok vydání: | 2007 |
| Předmět: |
Electrophoresis
Agar Gel Genetics Genotype Thalassemia Point mutation DNA Mutational Analysis Genetic Variation Anemia Hematology Biology medicine.disease Polymerase Chain Reaction alpha-Thalassemia Mutation Mutation (genetic algorithm) medicine Humans Point Mutation Multiplex Allele Gene Genotyping Alleles |
| Zdroj: | Haematologica. 92:254-255 |
| ISSN: | 1592-8721 0390-6078 |
| DOI: | 10.3324/haematol.10736 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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