title: Identification of Hb Hamilton or beta 11(A8)Val----Ile gene by the polymerase chain reaction amplification technique.
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.
authors.affiliation: Institute of General Physiology and Biological Chemistry, University of Sassari Ozieri, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Manca
authors.forename: E
authors.initials: E
authors.lastname: Cocco
authors.forename: G
authors.initials: G
authors.lastname: Cossu
authors.forename: B
authors.initials: B
authors.lastname: Masala
mesh_terms: D001483:Base Sequence; D005796:Genes; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007532:Isoleucine / Q000235:genetics*; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction / Q000379:methods; D014633:Valine / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D007532:Isoleucine; C040089:hemoglobin Hamilton; D014633:Valine