Article
Genotyping of BCL11A and HBS1L-MYB SNPs associated with fetal haemoglobin levels: a SNaPshot minisequencing approach.
BMC genomics - 6 Feb 2014
Fanis Pavlos, Kousiappa Ioanna, Phylactides Marios, Kleanthous Marina
Abstract excerpt
BACKGROUND: B-thalassaemia and sickle cell disease (SCD) are two of the most common monogenic diseases that are found in many populations worldwide. In both disorders the clinical severity is highly variable, with the persistence of fetal haemoglobin (HbF) being one of the major ameliorating factors. HbF levels are affected by, amongst other factors, single nucleotide polymorphisms (SNPs) at the BCL11A gene and...
Topics
- Carrier Proteins
- DNA, Intergenic
- Fetal Hemoglobin
- GTP-Binding Proteins
- Genotype
- HSP70 Heat-Shock Proteins
- Humans
- Multiplex Polymerase Chain Reaction
- Nuclear Proteins
- Peptide Elongation Factors
- Polymorphism, Single Nucleotide
- Proto-Oncogene Proteins c-myb
- Repressor Proteins