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. 2005 May;58(5):479–485. doi: 10.1136/jcp.2004.021642

Figure 2.

Figure 2

 Detection of unknown DNA variants. All denaturing high performance liquid chromatography (DHPLC) profiles are detected at the optimal temperatures and are shown after normalisation by Navigator software. The wild-type control is indicated by the dashed line. (A) Different mutations have unique profiles. The M435T, R453C, and R453H changes were found in the MYH7 exon 14 amplicon (M1  =  9070 T>C, M2  =  9123 C>T, and M3  =  9124 G>A, respectively). M2 and M3 at the same codon of R453 are two point mutations one base pair apart, but they have distinct profiles. (B) The same changes have consistent profiles, especially obvious after normalisation. A missense change (MYH7 exon 23, 13968 A>G, E894G) was found in three different unrelated patients. (C) Combinations of different variants have unique DHPLC profiles. Multiple DNA variants were found in the MYH7 exon 12 amplicon: V1  =  8310 G>A, K365K; V2  =  8277 C>T, G354G; V3  =  8343 C>T, N376N; and V4  =  8266 A>G+8310 G>A; K351E+K365K.