Characterization of the intracellular mechanism causing the alpha-1-antitrypsin Nullgranite falls deficiency state.

The American Review of Respiratory Disease
M D HolmesR G Crystal

Abstract

The alpha-1-antitrypsin (alpha 1AT) Null alleles are those for which no alpha 1AT can be detected in the serum attributable to the gene. The intracellular consequences of the various substitution, deletion, and insertion mutations causing the Null state can be categorized into two groups: those associated with detectable alpha 1AT mRNA transcripts and those with no detectable alpha 1AT mRNA transcripts. To classify the intracellular mechanism associated with the Nullgranite falls allele (Tyr160 TAC, C deletion, 5' frameshift----Stop160 TAG), a Nullgranite falls homozygote was evaluated. Genotypic diagnosis of the Nullgranite falls homozygous state was determined using the polymerase chain reaction and Nullgranite falls specific primers. Total cellular RNA extracted from alveolar macrophages of the index case was compared to that from a normal M1 homozygote for the presence of alpha 1AT mRNA transcripts using Northern blot analysis and hybridization to either a 32P-labeled full length alpha 1AT cDNA probe or (as a control) a 32P-labeled gamma-actin cDNA probe. Although the macrophages of both the Nullgranite falls homozygote and the normal showed gamma-actin mRNA transcripts in comparable amounts, Nullgranite falls macrophages c...Continue Reading

Citations

Jun 1, 1994·Australian and New Zealand Journal of Medicine·L CookJ Burdon
May 1, 1998·American Journal of Respiratory and Critical Care Medicine·R J Mason, R G Crystal
Dec 1, 1990·The Journal of Clinical Investigation·G C FrazierD W Cox
Mar 26, 2014·Journal of Internal Medicine·F de Serres, I Blanco
Aug 23, 2000·Respiratory Medicine·J H Lee, M Brantly

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