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Hb ananosa orα2111(G18)Ala→Valβ(α2 Mutation) and Hb mulhacen orα2123(H6)Ala→Serβ2(αl Mutation) are two silent stable variants detected by sequencing of amplified dna

 

作者: KazanetzE. G.,   LeonovaJ. Ye.,   WilsonJ. B.,   McMillanS. K.,   WalbrechtM.,   de Pablos GallegoJ. Mi.,   HuismanT. H. J.,  

 

期刊: Hemoglobin  （Taylor Available online 1995）
卷期: Volume 19, issue 1-2  

页码: 1-6

 

ISSN:0363-0269

 

年代: 1995

 

DOI:10.3109/03630269509069724

 

出版商: Taylor&Francis

 

数据来源: Taylor

 

摘要:

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 theα2 gene; GCC→GTC; Hb Anamosa) and Ala→Ser at position 123 (codon change in theαl gene; GCCOTCC; Hb Mulhacen). The two variants are stable. Sequencing of the amplifiedα2- and al-globin genes greatly facilitated the characterization of the two variants.

 

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