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Table 2 Correlation of genetic epidemiology of the ETFDH C.250G > A mutation and Southern Min Population

From: Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations

Regions and Countries

Southern Min (%)*

SouthernMin (millions)

No. ETFDH MADD cases

c.250G > A mutation (%)*

c.250G > A alleles (No.)

Homozygous cases

Heterozygous cases

Henan

Origin

9

17%

3

0

3

Chaoshan1

~ 90%

~ 14 m

2

100%

4

2

0

Fujian1,3

~ 60%

~ 20 m

58

81%

94

40

14

Taiwan2,3

~ 70%

~ 15.6 m

19

71%

27

10

7

Hainan1,3

~ 59%

~ 5 m

1

50%

1

0

1

Singapore2,3

~ 37%

~ 1.86 m

1

50%

1

0

1

Guangzhou area1,3

~ 6%

~ 3 m

6

42%

5

1

3

Hong Kong2,3

~ 6.7%

~ 0.5 m

3

17%

1

0

1

Thailand2,3

~ 9%

~ 5 m

3

50%

3

0

3

Shanghai areaa 1,3

~ 1%

~ 2 m

34

26%

18

6

6

Shandonga

< 1%

59

4%

5

0

5

Beijinga

< 1%

57

2%

2

0

2

Other provinces

< 1%

24

2%

1

0

1

Japan

< 1%

16

0%

0

0

0

Korea

< 1%

2

0%

0

0

0

Other Countries1,2,3

< 1%

~ 20 m

87

0.6%

1

0

1

Total

  

381

 

169

59

48

  1. *There is significant correlation of the estimated percentage of Southern Min population and the percentage of c.250G > A in total ETFDH mutation cases (Spearman correlation coefficient, p < 0.01)
  2. c.250G > A mutation (%): The allele frequency of the c.250G > A ETFDH mutation among all the reported cases in the regions/countries, assumed two ETFDH mutation alleles in each case
  3. aMajor Neuromuscular centres in China
  4. Guangzhou area: including Guangzhou and surrounding cities
  5. Shanghai area: including Shanghai and surrounding cities
  6. m: millions
  7. Estimated net number and percentage of Southern Min population in the regions calculated based on local population reports from Internet
  8. Data recourse: 1 Baidu; 2 Ethnologue; 3 Wikipedia,