Serum alpha1 antitrypsin levels and phenotypes were examined in 1000 healthy adults in Northern Ireland. The Pi phenotype M accounted for 87-8% Pi MS for 7-3% and Pi MZ for 3-5%. The percentages of the rarer phenotypes were Pi FM 0-3, Pi IM 0-6, Pi SZ 0-4 and Pi Z--0-1. ...
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 ...
a 52 kDa protease inhibitor13. The presence of α1-antitrypsin (α1AT) in inhibitory fractions 42_55 and 42_57 was confirmed by western blot analysis with an α1AT-specific antibody (Supplementary Fig.2c). α1AT belongs to the serine protease inhibitor (serpin) superfamily and protects ...
The finding is recorded of typical a1-antitrypsin globules, confirmed by immunofluorescence and immunoperoxidase methods, in the hepatocytes of a patient shown to have a normal serum antitrypsin level and normal phenotype (TiM) for a1-antitrypsin. The identification of such globules can no longer be...
Alpha-1 antitrypsin deficiency (AATD) is a significantly under-diagnosed genetic condition caused by reduced levels and/or functionality of alpha-1 antitrypsin (AAT), predisposing individuals to lung, liver or other systemic diseases. The management of individuals with the PI*MZ genotype, characterized...
Collaborative study to assess risk of lung disease in Pi MZ phenotype subjects Am Rev Respir Dis (1984) J Lieberman This week's citation classic Current Contents (1983) J Lieberman et al. Racial distribution of alpha1-antitrypsin variants among junior high school students Am Rev Respir Dis (19...
75 The phenotype for the α1-antitrypsin gene can be assessed.76 Heterozygous phenotypes usually do not manifest clinical liver disease,4 although hepatomegaly, spider nevi, and esophageal varices have been reported. Homozygotes of the PiZZ phenotype deposit abnormal α1-antitrypsin protein within ...
To study further the role of intermediate alpha1-antitrypsin (AAT) deficiency in chronic obstructive pulmonary disease (COPD), AAT Pi-types and serum-trypsin-inhibitory-capacity (STIC) were measured in 965 patients with COPD. Heterozygosity of the Z variant was the major cause of intermediate AAT...
A comparable control group contained 3.68% MZ, 6.23% MS, 0.71% SZ-SS, but no ZZ Pi phenotype. 展开 关键词: Alpha1-antitrypsin Allergy Pi phenotyping Serum trypsin inhibitory capacity (STIC) DOI: 10.1093/ajcp/64.3.297 被引量: 39
Relation of alpha-1-antitrypsin phenotype to the performance of pulmonary function tests and to the prevalence of respiratory illness in a working population. Individuals with severe alpha-1-antitrypsin (alpha1AT) deficiency (phenotype Pi ZZ) are abnormally liable to develop emphysema, but it is un...