Alloalbuminemia in Sweden: structural study and phenotypic distribution of nine albumin variants

Proc Natl Acad Sci U S A. 1992 Sep 1;89(17):8225-9. doi: 10.1073/pnas.89.17.8225.

Abstract

Plasma samples exhibiting alloalbuminemia on electrophoresis at pH 8.6 were requested from clinical laboratories throughout Sweden. Nine variants, each representing a different single point mutation, were found in 100 apparently unrelated Swedes. The overall prevalence of alloalbuminemia was estimated at 1:1700. Mutations were identified by protein-structural analysis followed by allele-specific DNA hybridization to verify the most common types. Slightly retarded (+1) mobility was seen in 80 cases. Of these, 71 had the Arg(-2)----Cys proalbumin variant previously called Malmö I proalbumin. Thirteen examples of the second most frequent type, the substitution Lys313----Asn and a mobility change of -1 charge unit, were found, as well as six cases of Glu570----Lys (albumin B) and a single case of Arg-1----Gln (proalbumin Christchurch). Five previously unreported types of alloalbuminemia were identified: four instances of Glu376----Gln, which is the second known mutation at this site; two examples of Asp550----Ala, the second mutation reported at this site; and one example each of Asp63----Asn, Gln268----Arg, and Asn318----Lys. Other mutations were identified among eight subjects of foreign descent. The high frequency and relatively uniform geographic distribution of the Arg-2----Cys mutation suggest that it may have occurred in a founder individual many generation ago in Sweden.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Electrophoresis
  • Gene Frequency
  • Humans
  • Molecular Sequence Data
  • Nickel / metabolism
  • Oligodeoxyribonucleotides / chemistry
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Protein Precursors / chemistry
  • Serum Albumin / chemistry
  • Serum Albumin / genetics*
  • Serum Albumin / metabolism
  • Sweden

Substances

  • Oligodeoxyribonucleotides
  • Protein Precursors
  • Serum Albumin
  • Nickel