Table 2 Frequency of the GJB2 sequence variations among patients and Altaian controls
From: First molecular screening of deafness in the Altai Republic population
Name | Nucleotide change | Number of unrelated chromosomes tested Frequency (95% CI) | ||
|---|---|---|---|---|
Altaian patientsa n = 60 | Altaian controls n = 260 | Russian patientsb n = 32 | ||
235delC | - | 4 0.067 (0.019–0.144) | 6 0.023 (0.009–0.045) | 1 0.031 (0–0.118) |
W172C | 516G>C | 1 0.017 (0–0.065) | 0 0 (0–0.004) | 0 0 (0–0.010) |
35delG | - | 0 0 (0–0.017) | 0 0 (0–0.004) | 11 0.344 (0.192–0.515) |
312del14 | - | 0 0 (0–0.017) | 0 0 (0–0.004) | 2 0.063 (0.007–0.172) |
R75Q | 224G>A | 0 0 (0–0.017) | 0 0 (0–0.004) | 1 0.031 (0–0.118) |
IVS1+27G>C | 1 0.017* (0–0.066) | - | 0 0** (0–0.059) | |
V27I | 79G>A | 10 0.167 (0.085–0.271) | 34 0.131 (0.093–0.175) | 0 0 (0–0.010) |
[V27I; E114G] | 79G>A+341A>G | 7 0.117 (0.049–0.210) | 17 0.065 (0.039–0.099) | 0 0 (0–0.010) |
F191L | 571T>C | 0 0 (0–0.017) | 1 0.004 (0–0.016) | 0 0 (0–0.010) |
V153I | 457G >A | 0 0 (0–0.017) | 1 0.004 (0–0.016) | 0 0 (0–0.010) |