title: Genetic characterization of an alloalbumin, albumin Kashmir, using gene amplification and allele-specific oligonucleotides.
abstract: The molecular basis for albumin Kashmir was studied using the polymerase chain reaction to amplify a DNA fragment containing codon 501 in exon 12 of the human albumin gene. Southern blots of the amplified DNA were hybridized to oligonucleotide probes specific either for the normal allele of albumin or for albumin Kashmir. The results provide strong evidence that codon 501 in albumin Kashmir is AAG (lysine) instead of GAG (glutamic acid), thus confirming the protein sequences reported. This approach was used to characterize a bisalbuminaemic individual as a carrier for albumin Kashmir. Similar strategies may be devised to study the molecular basis and to identify carriers of other alloalbumins.
authors.affiliation: Department of Biochemistry & Physiology, University of Reading, Whiteknights, U.K.
authors.forename: D
authors.initials: D
authors.lastname: Savva
authors.forename: A L
authors.initials: AL
authors.lastname: Tárnoky
authors.forename: M F
authors.initials: MF
authors.lastname: Vickers
mesh_terms: D000418:Albumins / Q000235:genetics*; D000483:Alleles; D001483:Base Sequence; D015139:Blotting, Southern; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D015345:Oligonucleotide Probes; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D000418:Albumins; D015345:Oligonucleotide Probes