A modified approach to identification of the sickle cell anemia mutation by means of allele-specific polymerase chain reaction
- 1 January 1992
- journal article
- research article
- Published by Hindawi Limited in Human Mutation
- Vol. 1 (5) , 417-419
- https://doi.org/10.1002/humu.1380010511
Abstract
The allele-specific PCR approach has been modified by introducing a second mismatch at the 3′-penultimate link of the primer and used to identify the sickle cell anemia mutation (A → T transversiion in the sixth codon of the human β-globin gene causing Glu → Val substitution in the protein), thus obviating the problem of an interpretationally ambiguous 3′-terminal mismatch including T residue.Keywords
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