A Novel Method for Creating Artificial Mutant Samples for Performance Evaluation and Quality Control in Clinical Molecular Genetics Michael Jarvis, Ramaswamy.

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Presentation transcript:

A Novel Method for Creating Artificial Mutant Samples for Performance Evaluation and Quality Control in Clinical Molecular Genetics Michael Jarvis, Ramaswamy K. Iyer, Laurina O. Williams, Walter W. Noll, Kirk Thomas, Milhan Telatar, Wayne W. Grody The Journal of Molecular Diagnostics Volume 7, Issue 2, Pages 247-251 (May 2005) DOI: 10.1016/S1525-1578(10)60551-X Copyright © 2005 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Diagram of general strategy for amplification of CFTR target arms from genomic DNA followed by plasmid cloning and site-directed mutagenesis. The Journal of Molecular Diagnostics 2005 7, 247-251DOI: (10.1016/S1525-1578(10)60551-X) Copyright © 2005 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Results of in-house pilot testing of constructed heterozygous and homozygous products for CFTR mutations G85E and 1078delT using a commercial reverse hybridization strip system (Roche Linear Array CF Gold 1.0). Test results from an actual patient sample are also shown for comparison (lane 6). The observed genotypes are: lane 1, negative for tested mutations; lane 2, G85E homozygote; lane 3, 1078delT homozygote; lane 4, G85E heterozygote; lane 5, 1078delT heterozygote; lane 6, negative for tested mutations. The Journal of Molecular Diagnostics 2005 7, 247-251DOI: (10.1016/S1525-1578(10)60551-X) Copyright © 2005 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 3 Exon 7 sequencing of wild-type and 1078delT mutation-containing plasmids. A: A segment of the plasmid containing the wild-type exon 7 sequence. B: The corresponding segment of the plasmid containing the 1078delT mutation. The arrows indicate the position of the T that is present in the wild-type but deleted in the mutation-containing sequence. The Journal of Molecular Diagnostics 2005 7, 247-251DOI: (10.1016/S1525-1578(10)60551-X) Copyright © 2005 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions