Table 1.
Deafness gene mutation carrier rates detected in 2174 newborns.
| Gene name | Site and nucleotide change | No. of cases | Heterozygous or homozygous | Carrier frequency (%) | Total rate (%) |
|---|---|---|---|---|---|
| GJB2 | c.35delG c.176_191del16 c.235delC c.299_300delAT |
1 2 46 6 |
Heterozygous Heterozygous Heterozygous Heterozygous |
0.05 0.09 2.12 0.28 |
2.53 |
| GJB3 | c.538C>T | 4 | Heterozygous | 0.18 | 0.18 |
| SLC26A4 | c.IVS7-2A>G c.2168A>G c.1174A>T c.1226G>A c.IVS15+5G>A c.2027T>A c.1229 C>T |
19 5 5 1 0 0 0 |
Heterozygous Heterozygous Heterozygous Heterozygous |
0.87 0.23 0.23 0.05 |
1.43 |
| c.1975G>C | 1 | Heterozygous | 0.05 | ||
| MT-RNR1 | m.1555A>G m.1494C>T |
4 0 |
Homoplasmy | 0.18 | 0.18 |
Comparison of the mutation rate in GJB2 and SLC26A4, χ2 = 1.020, p = 0.312 (>0.05).