Table 3.
Mutant genotypes, n (%) | Han | Zhuang | Yao | Miao | Dong | Mulao | Maonan | Tujia | Gelao |
---|---|---|---|---|---|---|---|---|---|
(n = 5,265) | (n = 3,464) | (n = 220) | (n = 184) | (n = 183) | (n = 108) | (n = 14) | (n = 6) | (n = 3) | |
GJB2 (NM_004004.5) | 61 (1.2) | 29 (0.8) | 2 (0.9) | 2 (1.1) | 3 (1.6) | 4 (3.7) | 0 | 0 | 1 (33.3) |
c.235de1C/- | 46 (0.9) | 24 (0.7) | 1 (0.4) | 2 (1.1) | 3 (1.6) | 3 (2.8) | 0 | 0 | 1 (33.3) |
c.299_300de1AT/- | 13 (0.3) | 3 (0.1) | 1 (0.4) | 0 | 0 | 1 (0.9) | 0 | 0 | 0 |
c.176_191del16/- | 2 (0.04) | 2 (0.06) | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
GJB3 (NM_024009.3) | 4 (0.08) | 1 (0.03) | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
c.538C>T/- | 2 (0.04) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
c.547G>A/- | 2 (0.04) | 1 (0.03) | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
SLC26A4 (NM_000441.2) | 60 (1.1) | 37 (1.1) | 2 (0.9) | 1 (0.5) | 1 (0.6) | 0 | 0 | 0 | 0 |
c.919-2A>G /- | 30 (0.6) | 16 (0.5) | 0 | 0 | 1 (0.6) | 0 | 0 | 0 | 0 |
c.1229C>T/- | 7 (0.1) | 11 (0.3) | 1 (0.4) | 1 (0.5) | 0 | 0 | 0 | 0 | 0 |
c.754T>C/- | 6 (0.1) | 6 (0.2) | 1 (0.4) | 0 | 0 | 0 | 0 | 0 | 0 |
c.1707+5G>A /- | 4 (0.08) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
c.2168 A>G/- | 4 (0.08) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
c.1975G>C/- | 2 (0.04) | 2 (0.06) | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
c.1174 A>T/- | 2 (0.04) | 1 (0.03) | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
c.1226 G>A/- | 1 (0.02) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
c.2162C>T/- | 1 (0.02) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
c.749T>C/- | 1 (0.02) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
ac.1975G>C/c.919-2A>G | 2 (0.04) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
ac.919-2A>G/c.754T>C | 0 | 1 (0.03) | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
MT-RNR1 (NC_012920.1) | 10 (0.2) | 5 (0.1) | 0 | 0 | 0 | 0 | 1 (7.1) | 1 (16.7) | 0 |
m.1555A>G/- | 7 (0.1) | 5 (0.1) | 0 | 0 | 0 | 0 | 1 (7.1) | 1 (16.7) | 0 |
m.1494C>T/- | 2 (0.04) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
am.1555A>G/m.1494C>T | 1 (0.02) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
Compound heterozygote.