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Alpha 1 antitrypsin deficiency due to Pi null: clinical presentation and evidence for molecular heterogeneity

F J Bamforth1, N A Kalsheker

  • 1Department of Medical Biochemistry, University of Wales College of Medicine, Royal Infirmary, Cardiff.

Journal of Medical Genetics
|February 1, 1988
PubMed

Insights

The rare proteinase inhibitor null (Pi-) allele causes alpha 1 antitrypsin (AAT) deficiency, leading to early childhood respiratory issues. Genetic analysis suggests Pi- may originate from the normal M1 allele.

Area of Science:

  • Genetics
  • Pulmonology
  • Biochemistry

Background:

  • Alpha 1 antitrypsin (AAT) deficiency is a genetic disorder.
  • The proteinase inhibitor null (Pi-) allele is a rare cause of AAT deficiency.
  • Early childhood respiratory symptoms like infections and wheezing are observed in affected individuals.

Observation:

  • Three families with AAT deficiency due to the Pi- allele were studied.
  • Subjects presented with recurrent chest infections and wheezing, potentially exacerbated by passive smoking.
  • The AAT gene is present in Pi- individuals, with no evidence of gene deletion.

Findings:

  • A restriction fragment length polymorphism (RFLP) using XbaI segregated with the Pi- allele in one family.
  • In a consanguineous family, the XbaI polymorphism segregated with the normal M1 allele, not Pi-.
  • This suggests the Pi- allele may have originated from the M1 allele.

Implications:

  • Understanding the genetic origin of rare AAT deficiency alleles is crucial.
  • The Pi- allele's potential origin from M1 provides insight into AAT gene evolution.
  • Further research is needed to fully elucidate the mechanisms and clinical impact of Pi-.

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