Table 4. Test results of the U-TOP™ HL Genotyping Kit and Sanger sequencing.
Sanger sequencing | |||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GJB2 | SLC26A4 | MTRNR1 | TMPRSS3 | CDH23 | Wild type | Total | |||||||||
p.V37I | c.299delAT | c.235delC | p.R143W | p.T410M | p.L676Q | p.H723R | c.IVS7-2A>G | 1555A>G | p.A306T | p.P240L | |||||
Real-time PCR | GJB2 | p.V37I | 15 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 15 |
c.299delAT | 0 | 10 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 10 | ||
c.235delC | 0 | 0 | 24 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 24 | ||
p.R143W | 0 | 0 | 0 | 12 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 12 | ||
SLC26A4 | p.T410M | 0 | 0 | 0 | 0 | 8 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 8 | |
p.L676Q | 0 | 0 | 0 | 0 | 0 | 7 | 0 | 0 | 0 | 0 | 0 | 0 | 7 | ||
p.H723R | 0 | 0 | 0 | 0 | 0 | 0 | 35 | 0 | 0 | 0 | 0 | 0 | 35 | ||
c.IVS7-2A>G | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 18 | 0 | 0 | 0 | 0 | 18 | ||
MTRNR1 | 1555A>G | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 4 | 0 | 0 | 0 | 4 | |
TMPRSS3 | p.A306T | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 8 | 0 | 0 | 8 | |
CDH23 | p.P240L | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 12 | 0 | 12 | |
Wild type | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 144 | 144 | ||
Total | 15 | 10 | 24 | 12 | 8 | 7 | 35 | 18 | 4 | 8 | 12 | 144 | 297 |