Manca, Laura and Cocco, Elena and Cossu, Gianfranco and Masala, Bruno Lucio (1992) Identification of Hb Hamilton or β11(A8)Val→Ile gene by the polymerase chain reaction amplification technique. Biochimica et Biophysica Acta. Molecular Basis of Disease, Vol. 1139 (1-2), p. 17-19. ISSN 0925-4439. Article.
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Amplification of the β-globin gene by the PCR technique, followed by the enzymatic of the DNA fragment obtained, was used to easily identify the human β-globin variant Hb Hamilton which is characterized by the valine to isoleucine substitution at position 11. The result revealed the predicted G to A transition at codon 11 which abolishes a MaeIII restriction site. This mutation, which is rather common among Sardinians, is at the level of one of the five CpG dinucleotides of the β-globin gene.
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