Biochim Biophys Acta. 1992 Jun 9;1139(1-2):17-9.

Identification of Hb Hamilton or beta 11(A8)Val----Ile gene by the polymerase chain reaction amplification technique.

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Institute of General Physiology and Biological Chemistry, University of Sassari Ozieri, Italy.

Abstract

Amplification of the beta-globin gene by the PCR technique, followed by the enzymatic digestion of the DNA fragment obtained, was used to easily identify the human beta-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 beta-globin gene.

PMID:: 1610915; [PubMed - indexed for MEDLINE]

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