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 |
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Hauptverfasser: | , , , , , , |
Format: | Artikel |
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. |
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ISSN: | 0363-0269 1532-432X |
DOI: | 10.3109/03630269509069724 |