title: Identification of a new α chain variant at codons 22-25 (-9 nts) using the Sebia capillarys 2 electrophoresis system.
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.
authors.affiliation: Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children Medical Center, Guangzhou Medical College, Guangzhou, Guangdong, People's Republic of China.
authors.forename: Can
authors.initials: C
authors.lastname: Liao
authors.forename: Jian-Ying
authors.initials: JY
authors.lastname: Zhou
authors.forename: Xing-Mei
authors.initials: XM
authors.lastname: Xie
authors.forename: Ying-Na
authors.initials: YN
authors.lastname: Liu
authors.forename: Li-He
authors.initials: LH
authors.lastname: Chen
authors.forename: Dong-Zhi
authors.initials: DZ
authors.lastname: Li
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D053801:Capillary Electrochromatography; D002681:China; D003062:Codon; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017384:Sequence Deletion; D055815:Young Adult; D055542:alpha-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics
chemical_list: D003062:Codon; D055542:alpha-Globins