title: Genetic variation in human serum albumin: a 313 Lys-->Asn mutation in albumin reading identified by PCR analysis.
abstract: An early case of bisalbuminaemia was reported in this journal in 1964, with the name Albumin Reading added later. Its use in electrophoretic comparisons led to some new variants being described as 'of the Reading type' on this basis alone. Protein sequencing and DNA studies have since found the single point mutation 313 Lys-->Asn common to this type, but the eponymous variant has not, until recently, been available for study. We now report on its characterisation using PCR analysis with allele-specific oligonucleotide primers, a method also applicable to studies of the population distribution of variants. We also draw attention to the need to link clinically-significant effects to individual variants of known structure.
authors.affiliation: School of Animal and Microbial Sciences, University of Reading, UK.
authors.forename: D
authors.initials: D
authors.lastname: Savva
authors.forename: B
authors.initials: B
authors.lastname: Li
authors.forename: U
authors.initials: U
authors.lastname: Kragh-Hansen
authors.forename: M
authors.initials: M
authors.lastname: Galliano
authors.forename: L
authors.initials: L
authors.lastname: Minchiotti
authors.forename: A L
authors.initials: AL
authors.lastname: Tárnoky
mesh_terms: D000368:Aged; D000595:Amino Acid Sequence; D001216:Asparagine / Q000235:genetics*; D003488:Cyanogen Bromide; D004247:DNA / Q000032:analysis; D005260:Female; D006801:Humans; D008239:Lysine / Q000235:genetics*; D008969:Molecular Sequence Data; D010446:Peptide Fragments / Q000737:chemistry; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012709:Serum Albumin / Q000737:chemistry / Q000235:genetics*; D014357:Trypsin / Q000378:metabolism
chemical_list: D010446:Peptide Fragments; D012709:Serum Albumin; D001216:Asparagine; D004247:DNA; D014357:Trypsin; D008239:Lysine; D003488:Cyanogen Bromide