Identification of a new high oxygen affinity hemoglobin variant: Hb Aurora [beta 139(H17) Asn-->Tyr].
A 73-year-old female of Dutch descent was referred for investigation of a high oxygen affinity hemoglobin variant. The beta-globin gene was amplified using the polymerase chain reaction. Direct nucleotide sequencing of the polymerase chain reaction amplified DNA revealed that she is heterozygous for a novel beta-globin gene mutation at codon 139, AAT-->TAT. The resulting hemoglobin variant has been designated Hb Aurora [beta 139 (H17) Asn-->Tyr].
Lafferty
J
J
Regional Hemoglobinopathy Laboratory, St. Joseph's Hospital, Hamilton, Ontario, Canada.
Ali
M
M
Matthew
K
K
Eng
B
B
Patterson
M
M
Waye
J S
JS
D000368:Aged; D001216:Asparagine / Q000502:physiology; D001483:Base Sequence; D001665:Binding Sites; D001797:Blood Protein Electrophoresis; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics / Q000302:isolation & purification* / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D008969:Molecular Sequence Data; D010100:Oxygen / Q000097:blood; D010108:Oxyhemoglobins / Q000235:genetics / Q000378:metabolism; D017354:Point Mutation; D016133:Polymerase Chain Reaction
D003062:Codon; D006455:Hemoglobins, Abnormal; D010108:Oxyhemoglobins; C098892:hemoglobin Aurora; D001216:Asparagine; D005914:Globins; D010100:Oxygen