Rapid and inexpensive detection of α1-antitrypsin deficiency-related allels S and Z by a real-time polymerase chain reaction suitable for a large-scale population-based screening

Journal of Molecular Diagnostics

Volumn 9, Issue 1, 2007, Pages 99-104

  Kaczor, Marcin P ^a   Sanak, Marek ^a   Szczeklik, Andrew ^a  

^a JAGIELLONIAN UNIVERSITY   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 1 ANTITRYPSIN; PRIMER DNA;

5' UNTRANSLATED REGION; ALLELE; ALPHA 1 ANTITRYPSIN DEFICIENCY; ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; GENE PROBE; GENETIC CODE; GENETIC SCREENING; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; POPULATION RESEARCH; POPULATION SIZE; PROTEIN BLOOD LEVEL; PROTEIN DETERMINATION; QUALITATIVE DIAGNOSIS; RELIABILITY; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; VALIDATION STUDY; BLOOD; COMPARATIVE STUDY; DIAGNOSTIC PROCEDURE; GENETICS; METHODOLOGY; POLYMERASE CHAIN REACTION;

ALLELES; ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; DNA PRIMERS; GENETIC SCREENING; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 33947539062     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2007.060048     Document Type: Article

References (29)

1. McElvaney NG, Stoller JK, Buist AS, Prakash UB, Brantly ML, Schluchter MD, Crystal RD: Baseline characteristics of enrollees in the National Heart, Lung and Blood Institute Registry of alpha 1-antitrypsin deficiency. Alpha 1-Antitrypsin Deficiency Registry Study Group. Chest 1997, 111:394-403
2. Piitulainen E, Eriksson S: Decline in FEV1 related to smoking status in individuals with severe alpha1-antitrypsin deficiency (PiZZ). Eur Respir J 1999, 13:247-251.
3. Szczeklik A, Stankowska K, Frydecka I: Cardiopulmonary function in 1-antitrypsin heterozygotes exposed to severe air pollution. Am Rev Respir Dis 1973, 107:289-291
4. Carrell RW, Lomas DA: Alpha1-antitrypsin deficiency - a model for conformational diseases, N Engl J Med 2002, 346:45-53
5. Needham M, Stockley RA: Alpha 1-antitrypsin deficiency. 3: Clinical manifestations and natural history. Thorax 2004, 59:441-445
6. Stoller JK: Alpha1-antitrypsin deficiency. Thorax 2004, 59:92-93
7. DeMeo DL, Silverman EK: Alpha1-antitrypsin deficiency. 2: Genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk. Thorax 2004, 59:259-264
8. Blanco I, Fernandez E, Bustillo EF: Alpha-1-antitrypsin PI phenotypes S and Z in Europe: an analysis of the published surveys. Clin Genet 2001, 60:31-41
9. Blanco I, de Serres FJ, Fernandez-Bustillo E, Lara B, Miravitlles M: Estimated numbers and prevalence of PI*S and PI*Z alleles of alpha1-antitrypsin deficiency in European countries. Eur Respir J 2006, 27:77-84
10. de Serres FJ: Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys. Chest 2002, 122:1818-1829
11. Hutchison DC: Alpha 1-antitrypsin deficiency in Europe: geographical distribution of Pi types S and Z. Respir Med 1998, 92:367-377
12. Blanco I, Bustillo EF, Rodriguez MC: Distribution of alpha1-antitrypsin PI S and PI Z frequencies in countries outside Europe: a meta-analysis. Clin Genet 2001, 60:431-441
13. de Serres FJ, Blanco I, Fernandez-Bustillo E: Genetic epidemiology of alpha-1 antitrypsin deficiency in North America and Australia/New Zealand: Australia, Canada, New Zealand and the United States of America. Clin Genet 2003, 64:382-397
14. de Serres FJ: Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed. Environ Health Perspect 2003, 111:1851-1854
15. Campos MA, Wanner A, Zhang G, Sandhaus RA: Trends in the diagnosis of symptomatic patients with alpha1-antitrypsin deficiency between 1968 and 2003. Chest 2005, 128:1179-1186
16. Fagerhol MK, Laurell CB: The polymorphism of "prealbumins" and alpha-1-antitrypsin in human sera. Clin Chim Acta 1967, 16:199-203
17. Allen RC, Harley RA, Talamo RC: A new method for determination of alpha-1-antitrypsin phenotypes using isoelectric focusing on polyacrylamide gel slabs. Am J Clin Pathol 1974, 62:732-739
18. Massi G, Fabiano A, Ragusa D, Auconi P: Characterization of alpha-1-antitrypsin by isoelectric focusing on an ultrathin polyacrylamide gel layer. An economic high-resolution system for determining PiM subtypes. Hum Genet 1979, 53:91-95
19. American Thoracic Society/European Respiratory Society Statement: Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med 2003, 168:818-900
20. 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 alpha1-antitrypsin genotype analysis. Eur Respir J 2003, 21:215-219
21. Braun A, Meyer P, Cleve H, Roscher AA: Rapid and simple diagnosis of the two common alpha 1-proteinase inhibitor deficiency alleles Pi*Z and Pi*S by DNA analysis. Eur J Clin Chem Clin Biochem 1996, 34:761-764
22. Lam CW, Pang CP, Poon PM, Yin CH, Bharathi G: Rapid screening for alpha1-antitrypsin Z and S mutations. Clin Chem 1997, 43:403-404
23. Tazelaar JP, Friedman KJ, Kline RS, Guthrie ML, Farber RA: Detection of alpha 1-antitrypsin Z and S mutations by polymerase chain reaction-mediated site-directed mutagenesis. Clin Chem 1992, 38:1486-1488
24. Ferrarotti I, Zorzetto M, Scabini R, Mazzola P, Campo I, Luisetti M: A novel method for rapid genotypic identification of alpha 1-antitrypsin variants. Diagn Mol Pathol 2004, 13:160-163
25. Aslanidis C, Nauck M, Schmitz G: High-speed detection of the two common alpha(1)-antitrypsin deficiency alleles Pi*Z and Pi*S by real-time fluorescence PCR and melting curves. Clin Chem 1999, 45:1872-1875
26. von Ahsen N, Oellerich M, Schutz E: Use of two reporter dyes without interference in a single-tube rapid-cycle PCR: alpha(1)-antitrypsin genotyping by multiplex real-time fluorescence PCR with the Light-Cycler. Clin Chem 2000, 46:156-161
27. Ortiz-Pallardó ME, Zhou H, Fischer HP, Neuhaus T, Sachinidis A, Vetter H, Brüning T, Ko Y: Rapid analysis of alpha1-antitrypsin PiZ genotype by a real-time PCR approach. J Mol Med 2000, 78:212-216
28. Orrù G, Faa G, Pillai S, Pilloni L, Montaldo C, Pusceddu G, Piras V, Coni P: Rapid PCR real-time genotyping of M-Malton alpha1-antitrypsin deficiency alleles by molecular beacons. Diagn Mol Pathol 2005, 14:237-242
29. Behrens M, Lange A: A highly reproducible and economically competitive SNP analysis of several well characterized human mutations. Clin Lab 2004, 50:305-316