title: Hb Hekinan observed in three Chinese from Macau; identification of the GAG----GAT mutation in the alpha 1-globin gene.
abstract: Hb Hekinan, an alpha chain variant that is characterized by a Glu----Asp mutation at position alpha 27, was observed in three Chinese females attending a prenatal clinic in Macau. The relative quantities of the stable hemoglobin were 13-14% (average 13.3%); its identification was greatly aided by the separation and purification of the peptides by reversed phase high performance liquid chromatography. Dot-blot analysis of amplified DNA with 32P-labeled probes located the mutation in codon 27 of the minor alpha 1-globin gene; the change involved a GAG (coding for glutamic acid) to GAT (coding for aspartic acid) mutation.
authors.affiliation: Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
authors.forename: W
authors.initials: W
authors.lastname: Zhao
authors.forename: J B
authors.initials: JB
authors.lastname: Wilson
authors.forename: B B
authors.initials: BB
authors.lastname: Webber
authors.forename: A
authors.initials: A
authors.lastname: Kutlar
authors.forename: G P
authors.initials: GP
authors.lastname: Tamagnini
authors.forename: B
authors.initials: B
authors.lastname: Kuam
authors.forename: T H
authors.initials: TH
authors.lastname: Huisman
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000596:Amino Acids / Q000032:analysis; D001224:Aspartic Acid / Q000235:genetics; D001483:Base Sequence; D002681:China / Q000208:ethnology; D003062:Codon / Q000235:genetics; D005260:Female; D005914:Globins / Q000235:genetics*; D005971:Glutamates / Q000235:genetics; D018698:Glutamic Acid; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008256:Macau; D008969:Molecular Sequence Data; D009154:Mutation
chemical_list: D000596:Amino Acids; D003062:Codon; D005971:Glutamates; D006455:Hemoglobins, Abnormal; C056356:hemoglobin Hekinan; D001224:Aspartic Acid; D018698:Glutamic Acid; D005914:Globins