Hb ananosa or α2111(G18)Ala → Valβ (α2 Mutation) and Hb mulhacen or α2123(H6)Ala → Serβ2 (αl Mutation) are two silent stable variants detected by sequencing of amplified dna

We have identified silent amino acid substitutions in two a chain variants present in families from Iowa, USA, and Granada, Spain. Both involve an alanine residue in the core peptide, namely Ala → Val at position 111 (codon change in the α2 gene; GCC → GTC; Hb Anamosa) and Ala → Ser at position 123...

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Veröffentlicht in:Hemoglobin 1995, Vol.19 (1-2), p.1-6
Hauptverfasser: Kazanetz, E. G., Leonova, J. Ye, Wilson, J. B., McMillan, S. K., Walbrecht, M., de Pablos Gallego, J. Mi, Huisman, T. H. J.
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Sprache:eng
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Zusammenfassung:We have identified silent amino acid substitutions in two a chain variants present in families from Iowa, USA, and Granada, Spain. Both involve an alanine residue in the core peptide, namely Ala → Val at position 111 (codon change in the α2 gene; GCC → GTC; Hb Anamosa) and Ala → Ser at position 123 (codon change in the αl gene; GCCOTCC; Hb Mulhacen). The two variants are stable. Sequencing of the amplified α2- and al-globin genes greatly facilitated the characterization of the two variants.
ISSN:0363-0269
1532-432X
DOI:10.3109/03630269509069724