Identification of Hb Hamilton or β11(A8)Val→Ile gene by the polymerase chain reaction amplification technique

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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DOI: 10.1016/0925-4439(92)90076-Y

Abstract

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.

Item Type:	Article
ID Code:	3077
Status:	Published
Refereed:	Yes
Uncontrolled Keywords:	PCR, β-globin gene, mutation, hemoglobin Hamilton, CpG dinucleotide
Subjects:	Area 05 - Scienze biologiche > BIO/10 Biochimica
Divisions:	001 Università di Sassari > 01 Dipartimenti > Scienze fisiologiche, biochimiche e cellulari 002 Altri enti e centri di ricerca del Nord Sardegna > Azienda ASL1, Sassari > Ospedale "A. Segni", Ozieri
Publisher:	Elsevier
ISSN:	0925-4439
Additional Information:	Pubblicato online il 13 gennaio 2003.
Deposited On:	01 Oct 2009 12:30

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