ELISA for specific detection of PiZ-related α1-antitrypsin deficiency

Clinical Chemistry

Volumn 50, Issue 12, 2004, Pages 2407-2410

  Gershagen, Sten ^a,c   Janciauskiene, Sabina ^b  

^a Wieslab AB   (Sweden)

^b LUND UNIVERSITY HOSPITAL   (Sweden)

^c Wieslab AB   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 1 ANTITRYPSIN;

ALLELE; ALPHA 1 ANTITRYPSIN DEFICIENCY; ARTICLE; AUTOSOMAL DISORDER; DIAGNOSTIC ACCURACY; EARLY DIAGNOSIS; ENZYME BLOOD LEVEL; ENZYME DEFICIENCY; ENZYME LINKED IMMUNOSORBENT ASSAY; ENZYME SPECIFICITY; GENE; GENE MUTATION; HUMAN; INTERMETHOD COMPARISON; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; PIZ GENE; RISK ASSESSMENT;

ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; ENZYME-LINKED IMMUNOSORBENT ASSAY; HETEROZYGOTE DETECTION; HUMANS;

EID: 9244261959     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2004.042424     Document Type: Article

References (25)

1. Travis J, Shieh BH, Potempa J. The functional role of acute phase plasma proteinase inhibitors. Tokai J Exp Clin Med 1988;13:313-20.
2. Potempa J, Korzus E, Travis J. The serpin superfamily of proteinase inhibitors: structure, function and regulation. J Biol Chem 1994;269:15957-60.
3. Kalsheker N, Morley S, Morgan K. Gene regulation of the serine proteinase inhibitors α1-antitrypsin and α1-antichymotrypsin. Biochem Soc Trans 2002;30:93-8.
4. Janciauskiene S. Conformational properties of serine proteinase inhibitors (serpins) confer multiple pathophysiological roles. Biochim Biophys Acta 2001;1535:221-35.
5. Sun Z, Yang P. Role of imbalance between neutrophil elastase and a 1-antitrypsin in cancer development and progression. Lancet Oncol 2004;5:182-90.
6. Walker JE, Campbell DM, Ogston D. Blood levels of proteinase inhibitors in pregnancy. Br J Obstet Gynaecol 1982;89:208-10.
7. Crystal RG. The α1-antitrypsin deficiency gene and its deficiency states. Trends Genet 1989;5:411-7.
8. Luisetti M, Seersholm N. α1-Antitrypsin deficiency. 1: epidemiology of α1-antitrypsin deficiency. Thorax 2004;59:164-9.
9. Laurell CB, Eriksson S. The electrophoretic α-1-globulin pattern of serum in α-1-antitrypsin deficiency. Scand J Clin Lab Invest 1963;15:132-40.
10. 1;-Antitrypsin deficiency. N Engl J Med 2002;346:45-53.
11. 1-Antitrypsin genotypes and phenotypes. In: Crystal RG, ed. α1-Antitrypsin deficiency. New York; Marcel Dekker, 1996:45-59.
12. Sveger T, Thelin T, McNeil TF. Neonatal α1-antitrypsin screening: parents' views and reactions 20 years after the identification of the deficiency state. Acta Paediatr 1999;88:315-8.
13. Qu D, Teckman JH, Perlmutter DH. Review: α1-antitrypsin deficiency associated liver disease. J Gastroenterol Hepatol 1997;12:404-16.
14. Barnes PJ. Chronic obstructive pulmonary disease. N Engl J Med 2000;343:269-80.
15. Sandford AJ, Silverman EK. Chronic obstructive pulmonary disease. 1: susceptibility factors for COPD the genotype-environment interaction. Thorax 2002;57:736-41.
16. Jeppsson JO, Franzen B. Typing of genetic variants of α1-antitrypsin by electrofocusing. Clin Chem 1982;28:219-25.
17. Andolfatto S, Namour F, Garnier AL, Chabot F, Gueant JL, Aimone-Gastin I. Genomic DNA extraction from small amounts of serum to be used for α1-antitrypsin genotype analysis. Eur Respir J 2003;21:215-9.
18. Lucotte G, Sesboue R. Polymerase chain reaction detection of S and Z α-1-antitrypsin variants by duplex PCR assay. Mol Cell Probes 1999;13:389-91.
19. Callea F, Fevery J, De Groote J, Desmet VJ. Detection of Pi Z phenotype individuals by α-1-antitrypsin (AAT) immunohistochemistry in paraffin-embedded liver tissue specimens. J Hepatol 1986;2:389-401.
20. Wallmark A, Alm R, Eriksson S. Monoclonal antibody specific for the mutant PiZ α 1-antitrypsin and its application in an ELISA procedure for identification of PiZ gene carriers. Proc Natl Acad Sci U S A 1984;8:5690-3.
21. Callea F, Brisigoti M, Faa G, Lucini L, Eriksson S. Identification gene products in liver tissue by monoclonal antibody specific for the Z mutant of α1-antitrypsin J Hepatol 1991;12:372-6.
22. Janciauskiene S, Dominaitiene R, Sternby NH, Piitulainen E, Eriksson S. Detection of circulating and endothelial cell polymers of Z and wild type α1-antitrypsin by a monoclonal antibody. J Biol Chem 2002;277:26540-6.
23. 1-antitrypsin. Hepatology 2004;40:1203-10.
24. Fredrikson GN, Hedblad B, Berglund G, Alm R, Ares M, Cercek B, et al. Identification of immune responses against aldehyde-modified peptide sequences in apoB associated with cardiovascular disease. Arterioscler Thromb Vasc Biol 2003;23:872-8.
25. Laurell CB. Electroimmunoassay. J Clin Lab Invest 1972;29:21-37.