title: Alpha 1 antitrypsin deficiency due to Pi null: clinical presentation and evidence for molecular heterogeneity.
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.
authors.affiliation: Department of Medical Biochemistry, University of Wales College of Medicine, Royal Infirmary, Cardiff.
authors.forename: F J
authors.initials: FJ
authors.lastname: Bamforth
authors.forename: N A
authors.initials: NA
authors.lastname: Kalsheker
mesh_terms: D002675:Child, Preschool; D004262:DNA Restriction Enzymes; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic; D012016:Reference Values; D012140:Respiratory Tract Diseases / Q000097:blood / Q000235:genetics*; D000515:alpha 1-Antitrypsin / Q000097:blood / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
chemical_list: D005819:Genetic Markers; D000515:alpha 1-Antitrypsin; D004262:DNA Restriction Enzymes