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Characterization by DNA sequencing of Hb F-Columbus-GA [Gγ94(FG1)Asp→Asn] observed in Sardinian newborn

Cherchi, Laura and Palici di Suni, Marcella and Manca, Laura and Masala, Bruno Lucio (2000) Characterization by DNA sequencing of Hb F-Columbus-GA [Gγ94(FG1)Asp→Asn] observed in Sardinian newborn. Hemoglobin, Vol. 24 (1), p. 53-57. eISSN 1532-432X. Article.

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DOI: 10.3109/03630260009002274

Abstract

This article refers to the second observation of the variant Hb F-Columbus-GA in families of Sardinian origin, the first to be ascertained at the DNA level. Sequencing of the amplified GγX-globin genes in eight newborns revealed the GAC →AAC transition occurring at codon 94 (exon 2) which resulted in an Asp →Asn amino acid substitution at position FG1. This mutation thus corresponds to Hb F-Columbus-GA, already described in Georgia (USA) in a newborn of Caucasian ancestry.

Item Type:Article
ID Code:3061
Status:Published
Refereed:Yes
Uncontrolled Keywords:Hb F-Columbus-GA, DNA level, Sardinia
Subjects:Area 05 - Scienze biologiche > BIO/10 Biochimica
Divisions:001 Università di Sassari > 01 Dipartimenti > Scienze fisiologiche, biochimiche e cellulari
Publisher:Taylor & Francis
eISSN:1532-432X
Deposited On:28 Sep 2009 13:47

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