Identification of a new α chain variant at codons 22-25 (-9 nts) using the Sebia capillarys 2 electrophoresis system.

HEMOGLOBIN(2011)

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摘要
We have identified a new a chain hemoglobin (Hb) variant in a Chinese family. Sequencing of the amplified alpha 2-globin gene revealed a 9 nucleotide (nt) deletion (-C GAG TAT GG) at codons 22-25, which results in a predicted alpha-globin chain that is missing amino acid residues 23-25 (Glu-Tyr-Gly) and the formation of Hb Zhanjiang.
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关键词
Hemoglobin (Hb) variant,Insertion,alpha-globin,Hb Zhanjiang
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