Table 3

Fl-SMN1 transcript levels of controls ,carrier , and patients with SMN1 subtle mutations
Control Carrier p.Ser8LysfsX23 p.Glu134Lys p.Leu228X p.Ser230Leu p.Tyr277Cys p.Arg288Met
n 4 8 2 2 1 2 1 2
Type II II I II,III II I,II
fl -SMN1 Mean ± SD 26.49 ± 13.88 185.71 ± 148.00 0.61 ± 0.30 6.30 ± 2.02 1.57 ± 0.38 3.54 ± 0.95 7.19 ± 2.72 0.05 ± 0.10
Min-Max 11.16-50.8 29-470 0.22-0.95 3.58-8.26 1.24-1.98 2.94-4.64 4.90-10.20 0-0.19
GAPDH Mean ± SD 2322.2 ± 1174.9 4857.3 ± 2452.5 3720 ± 1969 2742 ± 829.4 3247 ± 1079 1695 ± 456 8173 ± 2957 3002 ± 1801
Min-Max 1232-4700 1976-8660 2000-6500 1788-3680 2040-4120 1388-2220 5340-11240 1315-5300
corrected fl -SMN1 Mean ± SD 23.77 ± 7.74 9.47 ± 5.39 0.52 ± 0.46 4.59 ± 0.68 1.04 ± 0.39 4.18 ± 0.20 2.01 ± 0.89 0.07 ± 0.15
Min-Max 15.92-34.74 1.05-18.73 0.15-1.15 3.98-5.29 0.69-1.46 3.98-4.38 1.23-2.98 0-0.29
P value (t-test) - 0.000 a 0.000b 0.094b 0.000b 0.11b 0.032b 0.000b

fl -SMN1, GAPDH ,and corrected fl- SMN1 indicate transcript levels, measured as no. of molecules per nanogram of total RNA. Superscripted a means that the t-test was carried out between controls and carriers; Superscripted b means the t-test was performed between carrier and the patients with subtle mutations.

Yu-jin et al.

Yu-jin et al. BMC Medical Genetics 2012 13:86   doi:10.1186/1471-2350-13-86

Open Data