Allelic Imbalance in TOR1A mRNA Expression in Manifesting and Non-Manifesting Carriers of the GAG-Deletion

Table 3

Expression ratio of WT to ΔGAG TOR1A in brains from MC and NMC.

				Brain samples
				RNA → cDNA samples
Brain	Area	Phenotype	Detected; allele	MCp ± S.D.	ΔCp	Corrected; ΔCp	Fold expression
1	GP	M	WT	24.28 ± 0.20	0.83	1.02	2^−1.02
			ΔGAG	23.45 ± 0.19
	SN		WT	22.72 ± 0.22	0.63	0.82	2^−0.82
			ΔGAG	22.72 ± 0.32
2	GP	NM	WT	20.3 ± 0.28	0.64	0.83	2^−0.83
			ΔGAG	19.65 ± 0.20
	SN		WT	19.29 ± 0.17	0.72	0.91	2^−0.91
			ΔGAG	18.56 ± 0.13
	Genomic DNA		WT	25.36 ± 0.18	−0.19	0	2^0
	WT/ΔGAG		ΔGAG	25.55 ± 0.07

WT/WT: homozygous for the normal allele; WT/ΔGAG-TOR1A: carrier heterozygous for the mutant allele; AS-F, ASWT-R, ASΔE-R: allelic specific set of primers (Figure 1); MC: manifesting carriers; NMC: non-manifesting carrier; GP: globus pallidus; SN: substantia nigra; MCp ± S.D.: mean Cp values of triplicates for each reaction; ΔCp: MCp for WT minus MCp for mutant allele primer for each sample; corrected ΔCp: Mean ΔCp of each RNA sample minus ΔCp of heterozygous genomic DNA sample.