Rapid and simple diagnosis of the two common alpha 1-proteinase inhibitor deficiency alleles Pi*Z and Pi*S by DNA analysis

Eur J Clin Chem Clin Biochem. 1996 Sep;34(9):761-4. doi: 10.1515/cclm.1996.34.9.761.

Abstract

We describe a simple DNA-based method to assign the two common alpha 1-proteinase inhibitor (alpha 1-antitrypsin) deficiency alleles in the Pi-system (Pi*Z and Pi*S). Two sets of mutated primers are used in the polymerase chain reaction (PCR), followed by a restriction enzyme digest of the products. The mutated forward primers create a Taq I site only if the wildtype alleles (mostly M or subtypes) are present and not in the presence of the Pi*Z or Pi*S alleles. The reverse primers are mutated for an invariant Taq I site which serves as an internal control site in order to assure the completion of the restriction enzyme digest. The digested PCR products can be clearly resolved by 2.5% MetaPhore-agarose gel electrophoresis. This simple PCR probing of the most common alpha 1-antiproteinase deficiency alleles can be routinely applied either to samples showing quantitatively decreased alpha 1-antiproteinase values in serum or to blood spots of Guthrie cards used for mass screening purposes. In addition, this method may provide the opportunity for a simple, rapid, and reliable prenatal diagnosis of alpha 1-antiproteinase deficiency in special cases.

MeSH terms

  • Alleles
  • Base Sequence
  • DNA Mutational Analysis / methods*
  • Electrophoresis, Agar Gel
  • Humans
  • Molecular Sequence Data
  • Phenotype
  • Polymerase Chain Reaction
  • alpha 1-Antitrypsin / genetics
  • alpha 1-Antitrypsin Deficiency*

Substances

  • alpha 1-Antitrypsin