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Identification of a new α chain variant at codons 22-25 (-9 nts) using the Sebia capillarys 2 electrophoresis system
Can Liao1, Jian-Ying Zhou, Xing-Mei Xie
1Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, People's Republic of China.
Abstract:
We have identified a new α chain hemoglobin (Hb) variant in a Chinese family. Sequencing of the amplified α2-globin gene revealed a 9 nucleotide (nt) deletion (-C GAG TAT GG) at codons 22-25, which results in a predicted α-globin chain that is missing amino acid residues 23-25 (Glu-Tyr-Gly) and the formation of Hb Zhanjiang.
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