Identification of Hb Hamilton or beta 11(A8)Val----Ile gene by the polymerase chain reaction amplification technique.
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.
Manca
L
L
Institute of General Physiology and Biological Chemistry, University of Sassari Ozieri, Italy.
Cocco
E
E
Cossu
G
G
Masala
B
B
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*
D006455:Hemoglobins, Abnormal; D007532:Isoleucine; C040089:hemoglobin Hamilton; D014633:Valine