Alpha 1 antitrypsin deficiency due to Pi null: clinical presentation and evidence for molecular heterogeneity. Issue 2 (February 1988)

• Record Type: Journal Article
• Authors: Bamforth, F J; Kalsheker, N A
• Is Part Of: Journal of medical genetics. Volume 25:Issue 2(1988)
• Page Start: 83
• Page End: 87
• Publication Date: 1988-02
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.25.2.83
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : The proteinase inhibitor null (Pi-) allele is a rare cause of alpha 1 antitrypsin (AAT) deficiency. In three families, all the subjects with AAT deficiency due to PiZ- presented in early childhood with recurrent chest infections and wheezing presumably related to passive smoking. In Pi- the AAT gene is present and there is no evidence for a gene deletion. In one family a restriction fragment length polymorphism (RFLP) detected with the enzyme XbaI segregates with the Pi- allele. In a family where a consanguineous marriage occurred, the XbaI polymorphism segregates with the normal M1 allele rather than Pi-, suggesting that Pi- may have originated from M1. In contrast, a third family and 20 normal unrelated subjects do not show the RFLP.