Cloning and characterization of an alpha 1-antitrypsin like gene 12 KB downstream of the genuine alpha 1-antitrypsin gene

Biochem Biophys Res Commun. 1988 Sep 15;155(2):634-42. doi: 10.1016/s0006-291x(88)80542-4.


Cosmid clones containing alpha 1-antitrypsin (alpha 1AT) gene sequences were observed to contain alpha 1AT-like sequences approximately 12 kb downstream of the authentic alpha 1AT gene. Restriction mapping suggested the alpha 1AT-like gene lacks promoter sequences. Cosmid clones from one library contained a truncated alpha 1AT-like gene with a deletion encompassing 1745 bp, including the whole exon IV and part of exon V. Sequencing of exon II of this truncated gene revealed a nucleotide homology of 76% but included critical mutations in the start codon (ATG - greater than ATA) and the 3' exon-intron junction. These results strongly suggest that the truncated alpha 1AT-like gene is a pseudogene, which is present at a frequency of 0.30 in the Dutch population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Base Sequence
  • Cell Line
  • Chromosome Deletion
  • Chromosome Mapping
  • Cloning, Molecular*
  • DNA Restriction Enzymes / metabolism
  • Deoxyribonucleases, Type II Site-Specific*
  • Molecular Sequence Data
  • Polymorphism, Restriction Fragment Length
  • alpha 1-Antitrypsin / genetics*


  • alpha 1-Antitrypsin
  • DNA Restriction Enzymes
  • CTGCAG-specific type II deoxyribonucleases
  • Deoxyribonucleases, Type II Site-Specific

Associated data

  • GENBANK/M21890
  • GENBANK/M21891