J Med Genet. 1992 Jan;29(1):27-9.

What is Pi (proteinase inhibitor) null or PiQO?: a problem highlighted by the alpha 1 antitrypsin Mheerlen mutation.

Kalsheker N, Hayes K, Weidinger S, Graham A.

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Department of Medical Biochemistry, University of Wales College of Medicine, Royal Infirmary, Cardiff.

Abstract

alpha 1 antitrypsin deficiency is associated with predisposition to the development of pulmonary emphysema and childhood cirrhosis. There are two common deficiency alleles in the European population, proteinase inhibitor (Pi) Z and S. In addition, there are rare Pinull or QO variants which can be difficult to diagnose. A family assigned as having the PiQO allele by AAT protein quantification and isoelectric focusing was shown by DNA sequencing to have the PiMheerlen mutation (Pro369-Leu). This highlights the difficulties of diagnosis of PiQO.

PMID:: 1552539; [PubMed - indexed for MEDLINE]
PMCID:: PMC1015817

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Review Alpha1-antitrypsin deficiency. 2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk. [Thorax. 2004]
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