Emphysema associated with complete absence of alpha 1- antitrypsin in serum and the homozygous inheritance [corrected] of a stop codon in an alpha 1-antitrypsin-coding exon. Academic Article uri icon

Overview

MeSH

  • Adult
  • Alleles
  • Cloning, Molecular
  • Homozygote
  • Humans
  • Male
  • Mutation
  • alpha 1-Antitrypsin

MeSH Major

  • Codon
  • Exons
  • Pulmonary Emphysema
  • RNA, Messenger
  • alpha 1-Antitrypsin Deficiency

abstract

  • Homozygous inheritance of the null bellingham alpha 1-antitrypsin (alpha 1AT) gene is associated with early-onset emphysema, resulting from the lack of alpha 1AT 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 alpha 1AT deficiency has a very different genetic basis.

publication date

  • January 1988

has subject area

  • Adult
  • Alleles
  • Cloning, Molecular
  • Codon
  • Exons
  • Homozygote
  • Humans
  • Male
  • Mutation
  • Pulmonary Emphysema
  • RNA, Messenger
  • alpha 1-Antitrypsin
  • alpha 1-Antitrypsin Deficiency

Research

keywords

  • Case Reports
  • Journal Article

Identity

Language

  • eng

PubMed Central ID

  • PMC1715304

PubMed ID

  • 3257351

Additional Document Info

start page

  • 77

end page

  • 83

volume

  • 42

number

  • 1