Emphysema associated with complete absence of α1-antitrypsin of a stop codon in a n α1-antitrypsin-coding exon

K. Satoh, T. Nukiwa, M. Brantly, R. I. Garver, M. Hofker, M. Courtney, R. G. Crystal

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Abstract

Homozygous inheritance of the null bellingham α1-antitrypsin (α1AT) gene is associated with early-onset emphysema, resulting from the lack of α1AT to protect the lung from neutrophil elastase. Cloning and sequencing of the null bellingham gene demonstrated that the promoter region, coding exons, and all exon-intron junctions were normal except for a single base substitution in exon III, causing the normal lys217 (AAG) to become a stop codon (TAG). Evaluation of genomic DNA of family members by using oligonucleotides directed toward this region demonstrated that the index case had inherited this mutation in a homozygous fashion. Although the consequences to the individual (i.e., emphysema) are identical to those associated with the common homozygous Z mutation, the homozygous null bellingham form of α1AT deficiency has a very different genetic basis.

Original languageEnglish
Pages (from-to)77-83
Number of pages7
JournalAmerican Journal of Human Genetics
Volume42
Issue number1
Publication statusPublished - 1 Jan 1988
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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