title: Hb Aubenas [beta 62(B8)Glu-->Gly]: a new variant normally synthesized, affecting the same codon as in Hb E.
abstract: Hb Aubenas [beta 26(B8)Glu-->Gly] is a mildly unstable variant that was found in a French family without hematological or clinical features. The structural abnormality was determined by protein chemistry methods, including tandem mass spectrometry, and was confirmed by Apa I digestion of a polymerase chain reaction-amplified DNA fragment. Although the substitution involves the same residue as in Hb E, the new nucleotide sequence does not create an additional out-of-frame splice site. The mutated chain is therefore normally synthesized.
authors.affiliation: Unité de Pathologie Moléculaire, Fédération de Biochimie Hôpital Edouard Herriot, Lyon, France.
authors.forename: P
authors.initials: P
authors.lastname: Lacan
authors.forename: A
authors.initials: A
authors.lastname: Francina
authors.forename: D
authors.initials: D
authors.lastname: Promé
authors.forename: J
authors.initials: J
authors.lastname: Delaunay
authors.forename: F
authors.initials: F
authors.lastname: Galactéros
authors.forename: H
authors.initials: H
authors.lastname: Wajcman
mesh_terms: D000293:Adolescent; D003062:Codon; D004587:Electrophoresis, Agar Gel; D005260:Female; D005914:Globins / Q000235:genetics; D006446:Hemoglobin E / Q000096:biosynthesis / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000096:biosynthesis / Q000235:genetics*; D006801:Humans; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; C102338:hemoglobin Aubenas; D005914:Globins; D006446:Hemoglobin E