title: Purification and structural study of two albumin variants in an Irish population.
abstract: Two types of variant albumins were detected during routine electrophoresis on cellulose acetate on 34,000 sera from patients in a relatively stable Irish population. The fast type (IRE1) (relative mobility 1.05) had a heterozygote frequency of 1/3,780, and the slow type (IRE2) (relative mobility of 0.94) had a heterozygote frequency of 1/8,500. A method for purification of the two types of variants is described. Structural study of the fast variant established a single amino acid substitution 313 lysine----asparagine (313 Lys----Asn); this variant has been reported in several European populations and also in New Guinea indigenes. However, the slow variant has a new substitution, 479 glutamic acid----lysine (479 Glu----Lys). Because it appears to be uniquely Irish, the slow variant (formerly called IRE2) has been renamed albumin Dublin. Three other albumin variants most often reported in European populations (cumulative frequency only about 1/3,500) were not detected in this study. Because of the significance of albumin genetic variants for the study of protein evolution and as an aid in identification of drug-binding sites, clinical chemists are asked to be on the alert for cases of bisalbuminemia.
authors.affiliation: Department of Biology, Indiana University, Bloomington 47401.
authors.forename: Y
authors.initials: Y
authors.lastname: Sakamoto
authors.forename: E
authors.initials: E
authors.lastname: Davis
authors.forename: J
authors.initials: J
authors.lastname: Madison
authors.forename: S
authors.initials: S
authors.lastname: Watkins
authors.forename: H
authors.initials: H
authors.lastname: McLaughlin
authors.forename: D T
authors.initials: DT
authors.lastname: Leahy
authors.forename: F W
authors.initials: FW
authors.lastname: Putnam
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000595:Amino Acid Sequence; D002851:Chromatography, High Pressure Liquid; D003488:Cyanogen Bromide; D004588:Electrophoresis, Cellulose Acetate; D005260:Female; D014644:Genetic Variation; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007494:Ireland; D007525:Isoelectric Focusing; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010446:Peptide Fragments / Q000737:chemistry / Q000302:isolation & purification; D012697:Serine Endopeptidases; D012709:Serum Albumin / Q000737:chemistry* / Q000235:genetics; D000075462:Serum Albumin, Human
chemical_list: D010446:Peptide Fragments; D012709:Serum Albumin; C075240:albumin Dublin; C030763:alloalbumins; D012697:Serine Endopeptidases; C028344:glutamyl endopeptidase; D003488:Cyanogen Bromide; D000075462:Serum Albumin, Human