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Table 3 Fl- SMN1 transcript levels of controls ,carrier , and patients with SMN1 subtle mutations

From: Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7

  

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

  1. 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.