Cloning and characterization of an α1-antitrypsin like gene 12 kb downstream of the genuine α1-antitrypsin gene Academic Article Article uri icon


MeSH Major

  • Braces
  • Exercise Therapy
  • Intervertebral Disc
  • Low Back Pain
  • Spinal Diseases


  • 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 date

  • September 15, 1988



  • Academic Article


Digital Object Identifier (DOI)

  • 10.1016/S0006-291X(88)80542-4

PubMed ID

  • 2901833

Additional Document Info

start page

  • 634

end page

  • 42


  • 155


  • 2