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Is the Pi F allele of α 1 ‐antitrypsin as‐sociated with pulmonary disease?
Author(s) -
Beckman Gunhild,
Stjernberg Nils L.,
Eklund Anders
Publication year - 1984
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1984.tb00492.x
Subject(s) - allele , spirometry , pulmonary disease , phenotype , pulmonary function testing , pi , medicine , respiratory disease , disease , gastroenterology , genetics , biology , lung , gene , asthma , biochemistry
Pulmonary function was studied in thirteen individuals heterozygous for the α 1 ‐antitrypsin allele Pi F . Respiratory symptoms were present in seven out of twelve individuals with the FM phenotype, of which five had pulmonary function impairment, mostly of the obstructive type. One patient with the phenotype FZ had bronchitic symptoms and a mild obstructive spirometry pattern. The results suggest a relationship between the Pi F allele and chronic obstructive pulmonary disease, which is independent of the serum α 1 ‐AT level.