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

Table 2

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

			Lymphoblasts
			RNA → cDNA samples
Samples WT/ΔGAG	Phenotype	Detected allele	MCp ± S.D	ΔCp	Corrected ΔCp	Fold expression
1	MC	WT	27.64 ± 0.22	0.56	0.70	2^−0.70
		ΔGAG	27.18 ± 0.13
2	MC	WT	24.71 ± 0.08	0.38	0.52	2^−0.52
		ΔGAG	24.33 ± 0.16
3	MC	WT	24.87 ± 0.08	0.21	0.35	2^−0.35
		ΔGAG	24.66 ± 0.06
4	MC	WT	25.87 ± 0.15	0.36	0.50	2^−0.50
		ΔGAG	25.51 ± 0.25
5	MC	WT	27.93 ± 0.13	0.07	0.21	2^−0.21
		ΔGAG	27.87 ± 0.29
6	NMC	WT	26.58 ± 0.16	0.39	0.53	2^−0.53
		ΔGAG	26.19 ± 0.04
7	NMC	WT	24.8 ± 0.08	0.14	0.28	2^−0.28
		ΔGAG	24.67 ± 0.41
8	NMC	WT	29.79 ± 0.17	0.31	0.45	2^−0.45
		ΔGAG	29.49 ± 0.33
9	NMC	WT	28.53 ± 0.21	0.44	0.58	2^−0.58
		ΔGAG	28.09 ± 0.35
10	NMC	WT	26.93 ± 0.10	0.29	0.43	2^−0.43
		ΔGAG	26.63 ± 0.19
Genomic DNA		WT	26.06 ± 0.14	−0.14	0	2^0
WT/ΔGAG		ΔGAG	26.2 ± 0.48

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 carrier; NMC: non-manifesting carrier; 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.