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Table 6 Comparison of distribution difference between PAH genotype and PKU subtype

From: The spectrum of phenylalanine hydroxylase variants and genotype–phenotype correlation in phenylketonuria patients in Gansu, China

Variant

cPKU (n = 407)

MHP + mPKU (n = 560)

χ2

p1

Frequency

Frequency

c.728G > A

148 (36.36%)

144 (25.71%)

12.68

< 0.001

c.1068C > A

56 (13.76%)

35 (6.25%)

15.59

< 0.001

c.611A > G

50 (12.29%)

44 (7.86%)

5.27

0.022

c.442-1G > A

46 (11.30%)

31 (5.54%)

10.69

0.001

c.1238G > C

37 (9.09%)

35 (6.25%)

2.76

0.097

c.331C > T

41 (10.07%)

21 (3.75%)

15.71

< 0.001

c.764T > C

19 (4.67%)

8 (1.43%)

9.11

0.003

c.526C > T

12 (2.95%)

8 (1.43%)

2.69

0.101

EX1-1del

9 (2.21%)

2 (0.36%)

7.21

0.007

c.472C > T

8 (1.97%)

2 (0.36%)

5.96

0.015

Variant

mPKU (n = 403)

MHP + cPKU (n = 564)

χ2

p2

Frequency

Frequency

c.721C > T

66 (42.04%)

25 (4.43%)

37.81

< 0.001

c.842 + 2T > A

33 (8.19%)

31 (5.50%)

2.76

0.097

c.208_210delTCT

26 (6.45%)

16 (2.84%)

7.39

0.006

c.1301C > A

22 (5.46%)

6 (1.06%)

16.15

< 0.001

c.1252A > C

17 (4.22%)

2 (0.35%)

18.22

< 0.001

c.1199G > A

17 (4.22%)

17 (3.01%)

0.18

0.675

c.740G > T

11 (2.73%)

11 (1.95%)

0.64

0.423

Variant

MHP (n = 157)

mPKU + cPKU (n = 810)

χ2

p3

Frequency

Frequency

c.158G > A

51 (32.48%)

4 (0.49%)

250.89

< 0.001

c.1256A > G

15 (9.55%)

7 (0.86%)

44.67

< 0.001

c.1174T > A

9 (5.73%)

1 (0.12%)

40.43

< 0.001

c.1197A > T

4 (2.55%)

64 (7.90%)

5.77

0.016

EXUp_1del

4 (2.55%)

36 (4.44%)

1.19

0.275

c.782G > A

2 (1.27%)

35 (4.32%)

3.32

0.069

  1. Bonferroni correction, p1 < 0.005 was statistically significant; p2 < 0.007 was considered statistically significant. p3 < 0.008 was considered statistically significant
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Human Genomics

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