Characterization of the normal alpha 1-antitrypsin allele Vmunich: a variant associated with a unique protein isoelectric focusing pattern. Academic Article uri icon

Overview

MeSH

  • Amino Acid Sequence
  • Base Sequence
  • DNA
  • Humans
  • Isoelectric Focusing
  • Molecular Sequence Data
  • Polymerase Chain Reaction

MeSH Major

  • Alleles
  • alpha 1-Antitrypsin

abstract

  • alpha 1-Antitrypsin (alpha 1AT), the major serum inhibitor of neutrophil elastase, is a highly polymorphic protein associated with isoelectric focusing (IEF) patterns typical for each variant. alpha 1AT Vmunich, a previously unreported normal alpha 1AT variant, has a unique IEF banding pattern in which the 7 and 8 alpha 1AT protein bands focus with the normal M-type 7 and 8 bands, despite the fact that the major fraction of the Vmunich protein focuses in the "V" region of the IEF gel. To characterize the molecular basis of this variant and its unique IEF pattern, DNA sequence analysis of the coding exons of the Vmunich alpha 1AT gene was carried out using the polymerase chain reaction. The Vmunich allele differed from the common normal M1(Val213) alpha 1AT allele by a single nucleotide substitution of cytosine for adenosine, with the resultant amino acid change Asp2 GAT----Ala GCT. Inheritance of the allele was confirmed by family analysis using allele-specific amplification with the polymerase chain reaction. The Asp2----Ala mutation explains the cathodal position of the Vmunich protein on IEF, as there is a substitution of a negatively charged amino acid by a neutral one.(ABSTRACT TRUNCATED AT 250 WORDS)

publication date

  • April 1990

has subject area

  • Alleles
  • Amino Acid Sequence
  • Base Sequence
  • DNA
  • Humans
  • Isoelectric Focusing
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • alpha 1-Antitrypsin

Research

keywords

  • Journal Article

Identity

Language

  • eng

PubMed Central ID

  • PMC1683654

PubMed ID

  • 2316526

Additional Document Info

start page

  • 810

end page

  • 816

volume

  • 46

number

  • 4