Manca, Laura and Cocco, Elena and Masala, Bruno Lucio and Gilman, John G. (1990) Polymerase chain reaction amplification applied to the direct detection of a 4 bp deletion in the promoter region of the Aγ gene. American Journal of Hematology, Vol. 35 (2), p. 131-133. eISSN 1096-8652. Article.
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We report here the identification of a 4 bp deletion in the AγT globin gene promoter by means of Fnu4Hl digestion of DNA amplified by polymerase chain reaction (PCR). This deletion has been previously associated with haplotype II β-thalassemia in Sardinia. This simple, non-radioactive procedure should facilitate the screening of various populations of normal and β-thalassemic subjects for this specific genetic alteration.
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