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Comprehensive Arrayed Primer Extension Array for the Detection of 59 Sequence Variants in 15 Conditions Prevalent Among the (Ashkenazi) Jewish Population Iris Schrijver, Maigi Külm, Phyllis I. Gardner, Eugene P. Pergament, Morris B. Fiddler The Journal of Molecular Diagnostics Volume 9, Issue 2, Pages (April 2007) DOI: /jmoldx Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions
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Figure 1 APEX analysis for sequence variant 2281del6ins7 (735delATCTGAinsTAGATTC) in the BLM gene. Each numbered row represents the analysis of an individual patient sample. The row presents two sets of four-channel fluorescent images representing the bases adenine (A), cytosine (C), guanine (G), and thymine (T), respectively, for the sense strand (top) and anti-sense strand (bottom). The histograms to the right of the fluorescent images are of the fluorescent intensities of the four channels at the mutation analysis site (from left to right: A, C, G, and T). The letters to the right of the histogram represent the base(s) identified on each strand. Row 1 contains the results of heterozygous target DNA from an individual with genotype WT/2281del6ins7. In this case, the sense strand is extended by both the WT base A and base T, complementary for the mutation. The oligo that interrogates the mutation from the opposite direction demonstrates presence of a T (WT) and a G, the expected signal in a mutation carrier. This illustrates the separate primers used for deletions/insertions. Row 2 contains the results of normal DNA (WT/WT), in which the sense strand is extended by the WT base A and the anti-sense strand is extended by the WT base T. Row 3 is a negative control. The Journal of Molecular Diagnostics 2007 9, DOI: ( /jmoldx ) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions
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Figure 2 APEX analysis for sequence variant R696P in the IKBKAP gene. The results are presented as described in Figure 1. Row 1 contains the results of normal DNA (WT/WT), in which the sense strand is extended by the WT base G and the anti-sense strand is extended by the WT base C. Row 2 contains the results of heterozygous target DNA from a carrier (WT/R696P). In this case, the sense strand is extended by the WT base G and base C complementary for the mutation. The anti-sense strand is extended by WT base C and base G, complementary for the mutation. Row 3 is a negative control. The Journal of Molecular Diagnostics 2007 9, DOI: ( /jmoldx ) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions
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