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

E. G. Kazanetz Laboratory of Protein Chemistry, Department of Biochemistry and Molecular Biology Medical College of Georgia, Augusta, GA, 30912-2100, USA

J. Ye. Leonova Laboratory of Protein Chemistry, Department of Biochemistry and Molecular Biology Medical College of Georgia, Augusta, GA, 30912-2100, USA

J. B. Wilson Laboratory of Protein Chemistry, Department of Biochemistry and Molecular Biology Medical College of Georgia, Augusta, GA, 30912-2100, USA

S. K. McMillan University Hygienic Laboratory, Des Moines Division Des, Moines, IA, 50319, USA

M. Walbrecht University Hygienic Laboratory, Des Moines Division Des, Moines, IA, 50319, USA

J. Mi. de Pablos Gallego Servicio de Hematologia, Hospital “Virgen de las Nieves” 18014, Granada, Spain

T. H. J. Huisman Laboratory of Protein Chemistry, Department of Biochemistry and Molecular Biology Medical College of Georgia, Augusta, GA, 30912-2100, USA

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Abstract

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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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

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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

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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