Table 2.
Correlation of genetic epidemiology of the ETFDH C.250G > A mutation and Southern Min Population
| 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 |
*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)
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
aMajor Neuromuscular centres in China
Guangzhou area: including Guangzhou and surrounding cities
Shanghai area: including Shanghai and surrounding cities
m: millions
Estimated net number and percentage of Southern Min population in the regions calculated based on local population reports from Internet
Data recourse: 1 Baidu; 2 Ethnologue; 3 Wikipedia,