The Detection of Point Mutations in Hemoglobin Defects Using Allele-Specific Oligonucleotide Probes

The genetic disorders of hemoglobin, notably, sickle cell anemia and the α- and β-thalassemia, are the commonest genetic diseases in humans. Furthermore, the majority of these mutant globin genes, particularly those causing β-thalassemia, are owing to point mutations that do not involve cleavage sites for restriction enzyme, which means that allele-specific oligonucleotide probe hybridization has become indispensable for the direct detection of these point mutations.