Polymerase chain reaction amplification applied to the direct detection of a 4 bp deletion in the promoter region of the A gamma gene.
We report here the identification of a 4 bp deletion in the A gamma T globin gene promoter by means of Fnu4HI digestion of DNA amplified by polymerase chain reaction (PCR). This deletion has been previously associated with haplotype II beta-thalassemia in Sardinia. This simple, non-radioactive procedure should facilitate the screening of various populations of normal and beta-thalassemic subjects for this specific genetic alteration.
Institute of General Physiology and Biological Chemistry, University of Sassari, Italy.
L
L
Manca
E
E
Cocco
B
B
Masala
J G
JG
Gilman
D002872:Chromosome Deletion; D004247:DNA; D004587:Electrophoresis, Agar Gel; D005914:Globins / Q000235:genetics*; D006801:Humans; D016133:Polymerase Chain Reaction; D011401:Promoter Regions, Genetic; D013789:Thalassemia / Q000235:genetics*
D005914:Globins; D004247:DNA