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Alpha‐1‐antitrypsin (Pi) types in Down's syndrome
Author(s) -
Arnaud Philippe,
Burdash N. M.,
Wilson G. B.,
Fudenberg H. H.
Publication year - 1976
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.1399-0004.1976.tb00041.x
Subject(s) - phenotype , alpha 1 antitrypsin deficiency , alpha (finance) , down syndrome , pi , genetics , medicine , biology , gene , biochemistry , construct validity , nursing , patient satisfaction
Alpha‐1‐antitrypsin (Pi) phenotypes have been determined in 40 patients suffering from Down's syndrome. Thirty‐six of the patients were found to have a normal M phenotype, whereas two deficient phenotypes of the MS variety were observed. In addition, two M variants were noted. The significance of an M variant phenotype in some patients with Down's syndrome is not completely understood and is currently under investigation. Since the majority of the patients had a normal alpha‐1‐antitrypsin phenotype, the results of this study indicate that a deficiency in alpha‐1‐antitrypsin plays no role in the respiratory fragility of individuals with Down's syndrome.