Cosmid clones containing α1-antitrypsin (αlAT) gene sequences were observed to contain α1AT-like sequences approximately 12 kb downstream of the authentic α1AT gene. Restriction mapping suggested the α1AT-like gene lacks promoter sequences. Cosmid clones from one library contained a truncated α1AT-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 -> ATA) and the 3′ exon-intron junction. These results strongly suggest that the truncated α1AT-like gene is a pseudogene, which is present at a frequency of 0.30 in the Dutch population.

Original languageEnglish
Pages (from-to)634-642
Number of pages9
JournalBiochemical and Biophysical Research Communications
Issue number2
StatePublished - Sep 15 1988


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