Article
Molecular spectrum of β-thalassemia mutations in the admixed Venezuelan population, and their linkage to β-globin gene haplotypes.
Hemoglobin - 1 Jan 2012
Bravo-Urquiola Martha, Arends Anabel, Gómez Gilberto, Montilla Silvia, Gerard Nathalie, Chacin Marycarmen, Berbar Tsouria, García Odalis, García Gloria, Velasquez Dalia, Castillo Omar, Krishnamoorthy Rajagopal
Abstract excerpt
In order to establish the spectrum of β-thalassemia (β-thal) mutations in the Venezuelan population for the first time, 127 unrelated subjects either with a suspicion of β-thal trait or with a clinically recognized β-thal syndrome of different degrees of severity, were studied. DNA from these subjects was analyzed by a polymerase chain reaction (PCR)-based reverse dot-blot method or amplification refractory...
Topics
- Base Sequence
- DNA Mutational Analysis
- Gene Frequency
- Genotype
- Haplotypes
- Humans
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Prevalence