Publication Type Case Report
Authors Satoh K, Nukiwa T, Brantly M, Garver R, Hofker M, Courtney M, Crystal R
Journal Am J Hum Genet
Volume 42
Issue 1
Pagination 77-83
Date Published 01/01/1988
ISSN 0002-9297
Keywords 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.
PubMed ID 3257351
PubMed Central ID PMC1715304
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