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‘SZ like’α1‐antitrypsin phenotypes in PI ZZ children with liver disease
Author(s) -
WHITEHOUSE D. B.,
LOVEGROVE J. U.,
MIELIVERGANI G.,
MOWAT A. P.,
HOPKINSON D. A.
Publication year - 1994
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.1994.tb00721.x
Subject(s) - phenotype , gene isoform , pi , liver disease , isoelectric focusing , biology , disease , genotype , confusion , genetics , medicine , pathology , gene , biochemistry , psychology , psychoanalysis , enzyme
SUMMARY Using high resolution isoelectric focusing, α1‐antitrypsin phenotypes were studied in 106 individuals of the PI ZZ genotype including 71 with liver disease, 22 with chest disease and 13 healthy subjects. The resulting Z patterns were found to be highly variable. In the majority of cases (89/106) the maximum staining intensity was either in the most basic isoform or shared equally between two basic isoforms of the Z phenotype. However, in 17 cases there was a marked intensification of the more acidic isoforms resulting in a pattern which closely resembled the SZ phenotype. This ‘SZ like’ pattern occurred more frequently in the liver group (16/71) than the chest group (0/22) or healthy (1/13) controls. One possible consequence of the ‘SZ like’ pattern is confusion with the genuine SZ phenotype leading to misclassification. If this were so, there could be an erroneous exaggeration of the actual incidence of childhood liver disease associated with PI SZ.