Validation of Denaturing High Performance Liquid Chromatography as a Rapid Detection Method for the Identification of Human INK4A Gene Mutations Irene.

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Presentation transcript:

Validation of Denaturing High Performance Liquid Chromatography as a Rapid Detection Method for the Identification of Human INK4A Gene Mutations Irene Orlow, Pampa Roy, Allison Barz, Rebecca Canchola, Yan Song, Marianne Berwick The Journal of Molecular Diagnostics Volume 3, Issue 4, Pages 158-163 (November 2001) DOI: 10.1016/S1525-1578(10)60667-8 Copyright © 2001 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Detection of INK4A mutations by DHPLC. Elution profiles obtained in melanoma cases or known mutants for INK4A exon 1α at 67°C (A, B, C); INK4A exon 2 at 65°C (D, E, F); and INK4A exon 2 at 65, 69, and 70°C (G, H, I). Representative normal profiles are depicted in panels A and D. Note the additional peaks obtained for the mutant control no. 1489F, case no. 2044, case no. 2049 and control BlTm50 (panels B, C, E, F; Table 2). The mutation present in cell line SK-Mel21 (c.58 Arg → stop) is evident at all of the temperatures analyzed for exon 2, as compared with a wild-type elution profile (dotted line) (G, H, I, note details of the mutant profile). The numbers on the x axis correspond to the column retention time in minutes. Only a portion of the chromatographic profile containing the homoduplex or heteroduplex peaks is shown. The Journal of Molecular Diagnostics 2001 3, 158-163DOI: (10.1016/S1525-1578(10)60667-8) Copyright © 2001 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Detection of INK4A-exon 3 variants by DHPLC and direct sequencing. A: Homoduplex profile in normal human placental DNA obtained at 59°C (upper panel) and 60°C (middle panel). B: Heteroduplex profile corresponding to melanoma DNA no. 2046 mixed with wild-type DNA.C: Sequencing analysis of normal DNA showing the C/C variant in position 500. D: Sequencing analysis of case no. 2046 shows heterozygosity (C/G,arrow) at position 500. The Journal of Molecular Diagnostics 2001 3, 158-163DOI: (10.1016/S1525-1578(10)60667-8) Copyright © 2001 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions