Table 2.
Prevalence of GJB2 mutations in different areas of China
| Number of NSHI | c.235delC allele | c.299_c.300delAT allele | c.176_c.191del16 allele | Uncommon mutant allele | total number of mutant alleles(%) | ||||||||||||
| total | with two mutation | 1 allele with one mutaion | number with 1 mutant allele (%) | homo | het | total (%)a | homo | het | total (%)a | homo | het | total (%)a | homo | het | total (%)a | ||
| Jiangsu | 102 | 26 | 10 | 36 (35.3) | 12 | 18 | 42 (67.7) | 2 | 7 | 11 (17.7) | 1 | 7 | 9 (14.5) | 0 | 0 | 0 | 30.4 |
| Nei Mongol | 115 | 30 | 5 | 35 (30.4) | 14 | 18 | 46 (70.8) | 0 | 11 | 11 (16.9) | 0 | 3 | 3 (4.6) | 1 | 3 | 5 (7.7) | 28.3 |
| Beijing | 155 | 37 | 6 | 43 (27.7) | 24 | 13 | 61 (76.3) | 0 | 10 | 10 (12.5) | 0 | 0 | 0 | 0 | 9 | 9 (11.3) | 25.8 |
| Hebei | 64 | 14 | 3 | 17 (26.6) | 7 | 9 | 23 (74.2) | 0 | 3 | 3 (9.7) | 0 | 1 | 1 (3.2) | 0 | 4 | 4 (12.9) | 24.2 |
| Shanghai | 31 | 7 | 1 | 8 (25.8) | 3 | 5 | 11 (73.3) | 0 | 2 | 2 (13.3) | 0 | 1 | 1 (6.7) | 0 | 1 | 1 (6.7) | 24.2 |
| Heilongjiang | 36 | 5 | 4 | 9 (25.0) | 1 | 7 | 9 (64.3) | 0 | 2 | 2 (14.3) | 0 | 0 | 0 | 0 | 3 | 3 (21.4) | 19.4 |
| Guangdong | 77 | 15 | 4 | 19 (24.7) | 10 | 7 | 27 (79.4) | 0 | 4 | 4 (11.8) | 0 | 0 | 0 | 0 | 3 | 3 (8.8) | 22.1 |
| Sichuan | 109 | 17 | 8 | 25 (22.9) | 10 | 13 | 33 (78.6) | 0 | 3 | 3 (7.1) | 0 | 4 | 4 (9.5) | 0 | 2 | 2 (4.8) | 19.3 |
| Shanxi | 57 | 11 | 2 | 13 (22.8) | 4 | 9 | 17 (70.8) | 0 | 5 | 5 (20.8) | 0 | 1 | 1 (4.2) | 0 | 1 | 1 (4.2) | 21.1 |
| Gansu | 42 | 7 | 2 | 9 (21.4) | 3 | 5 | 11 (68.8) | 0 | 3 | 3 (18.8) | 0 | 0 | 0 | 0 | 2 | 2 (12.5) | 19 |
| Jilin | 57 | 12 | 0 | 12 (21.1) | 7 | 4 | 18 (75.0) | 0 | 5 | 5 (21.0) | 0 | 0 | 0 | 0 | 1 | 1 (4.0) | 21.1 |
| Fujian | 48 | 6 | 4 | 10 (20.8) | 5 | 4 | 14 (87.5) | 0 | 1 | 1 (6.3) | 0 | 0 | 0 | 0 | 1 | 1 (6.3) | 16.7 |
| Ningxia | 145 | 20 | 9 | 29 (20.0) | 8 | 14 | 30 (61.2) | 1 | 3 | 5 (10.2) | 0 | 4 | 4 (8.2) | 0 | 10 | 10 (20.4) | 16.9 |
| Xinjiang | 136 | 19 | 8 | 27 (19.9) | 9 | 5 | 23 (50.0) | 2 | 4 | 8 (17.4) | 0 | 3 | 3 (6.5) | 1 | 10 | 12 (26.1) | 16.9 |
| Hubei | 47 | 7 | 2 | 9 (19.1) | 6 | 2 | 14 (87.5) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 2 | 2 (12.5) | 17 |
| Yunnan | 230 | 23 | 19 | 42 (18.3) | 11 | 14 | 36 (55.4) | 1 | 3 | 5 (7.7) | 1 | 2 | 4 (6.2) | 1 | 18 | 20 (30.8) | 14.1 |
| Guiyang | 138 | 23 | 2 | 25 (18.1) | 16 | 9 | 41 (85.4) | 0 | 6 | 6 (12.5) | 0 | 0 | 0 | 0 | 1 | 1 (2.1) | 17.4 |
| Henan | 126 | 16 | 5 | 21 (16.7) | 10 | 8 | 28 (75.7) | 0 | 5 | 5 (13.5) | 0 | 0 | 0 | 0 | 4 | 4 (10.8) | 14.7 |
| Tibet | 118 | 0 | 19 | 19 (16.1) | 0 | 2 | 2 (10.5) | 0 | 1 | 1 (5.3) | 0 | 0 | 0 | 0 | 16 | 16 (84.2) | 8.1 |
| Qinghai | 56 | 5 | 3 | 8 (14.3) | 1 | 3 | 5 (38.5) | 2 | 2 | 6 (46.2) | 0 | 0 | 0 | 0 | 2 | 2 (15.4) | 11.6 |
| Anhui | 35 | 3 | 2 | 5 (14.3) | 1 | 4 | 6 (75.0) | 0 | 1 | 1 (12.5) | 0 | 1 | 1 (12.5) | 0 | 0 | 0 | 11.4 |
| Shaanxi | 52 | 3 | 2 | 5 (9.6) | 1 | 4 | 6 (75.0) | 0 | 1 | 1 (12.5) | 0 | 0 | 0 | 0 | 1 | 1 (12.5) | 7.7 |
| Guangxi | 87 | 1 | 5 | 6 (6.9) | 1 | 4 | 6 (85.7) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 (14.3) | 4 |
| total | 2063 | 307 | 125 | 432 | 164 | 181 | 345 | 8 | 82 | 90 | 2 | 27 | 29 | 3 | 95 | 98 | 17.9 |
homo: homozygous; het: hetrozygous; apercentage of total mutant alleles identified.