Rapid and Inexpensive Detection of α1-Antitrypsin Deficiency-Related Alleles S and Z by a Real-Time Polymerase Chain Reaction Suitable for a Large-Scale.

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Rapid and Inexpensive Detection of α1-Antitrypsin Deficiency-Related Alleles S and Z by a Real-Time Polymerase Chain Reaction Suitable for a Large-Scale Population- Based Screening Marcin P. Kaczor, Marek Sanak, Andrew Szczeklik The Journal of Molecular Diagnostics Volume 9, Issue 1, Pages 99-104 (February 2007) DOI: 10.2353/jmoldx.2007.060048 Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Ethidium bromide-stained agarose gel showing results of amplification and digestion in RFLP method (DNA size marker, pBR322 DNA/AluI). MM samples should be interpreted as non-PI*S and non-PI*Z. The Journal of Molecular Diagnostics 2007 9, 99-104DOI: (10.2353/jmoldx.2007.060048) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Automated laser fluorescence electrophoresis. First trace, DNA size marker (pBR322 DNA/AluI); next five traces, RFLP assay for PI*S mutation detection; and the last five, for PI*Z allele. In the case of PI*Z heterozygotes, some inequality of the peaks is seen, not interfering with the interpretation of results. MM samples should be interpreted as non-PI*S and non-PI*Z. The Journal of Molecular Diagnostics 2007 9, 99-104DOI: (10.2353/jmoldx.2007.060048) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 3 Real-time PCR with dual-labeled fluorescent probes. PCR amplification plots were baseline-subtracted and fitted automatically by the software. Increase in fluorescence is expressed in relative fluorescence units (RFU). ROX dye labeled the probe for a wild-type allele (A); FAM marked the probe for a mutant allele (B). The genotypes were automatically scored using allelic discrimination graph for ROX versus FAM (C). See Results for details. The Journal of Molecular Diagnostics 2007 9, 99-104DOI: (10.2353/jmoldx.2007.060048) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions