Hb Hekinan observed in three Chinese from Macau; identification of the GAG----GAT mutation in the alpha 1-globin gene.
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.
Zhao
W
W
Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
Wilson
J B
JB
Webber
B B
BB
Kutlar
A
A
Tamagnini
G P
GP
Kuam
B
B
Huisman
T H
TH
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
D000596:Amino Acids; D003062:Codon; D005971:Glutamates; D006455:Hemoglobins, Abnormal; C056356:hemoglobin Hekinan; D001224:Aspartic Acid; D018698:Glutamic Acid; D005914:Globins