Figure 4
From: Predisposition of genetic disease by modestly decreased expression of GCH1 mutant allele
The relative level of the mutant mRNAs in parents' blood cells. Exon 1 and 5 of GCH1 was amplified and a single base was extended for the quantification of relative ratio between mutant and normal mRNAs. The signal amplitude is not equal among different fluorescent eventhough the ratio is the same, so the signal from gDNA was used for the reference. The ratio of mutant (M) and normal (N) for R198W was decreased into about a half in cDNA when compared to the signal ratios of M and N in gDNA (arrow head). But the ratio of M and N for R59G was not changed in cDNA.
