Table 1. Summary of SNV analysis in spermatozoal samples across different categories of the patients.
| S. No. | SNV type | Patients (%) with allele A + B |
Patients (%) with allele A only |
Mutations observed in RS | Patients (%) with allele B only |
Mutations observed in RS | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| OS | AZ | INS | NFM | OS | AZ | INS | NFM | OS | AZ | INS | NFM | ||||
| 1 | DAZ-SNV_I | 100 | 100 | 100 | 100 | – | – | – | – | None | – | – | – | – | None |
| 2 | DAZ-SNV_II | 84 | 74 | 90 | 100 | – | – | – | – | None | 16 | 26 | 10 | – | G > A (MboI) |
| 3 | DAZ-SNV_III (sY586) | 84 | 74 | 90 | 100 | – | – | – | – | None | 16 | 26 | 10 | – | T > C (TaqI) |
| 4 | DAZ-SNV_IV | 84 | 74 | 90 | 100 | – | – | – | – | None | 16 | 26 | 10 | – | T > C (AluI) |
| 5 | DAZ-SNV_V (sY587) | 74 | 39 | 55 | 100 | – | – | – | – | None | 26 | 61 | 45 | – | T > C (DraI) |
| 6 | DAZ-SNV_VI | 86 | 65 | 92 | 100 | 14 | 35 | 8 | – | G > T (AflIII) | – | – | – | – | None |
| 7 | DAZ-SNV_VII (sY581) | 100 | 100 | 100 | 100 | – | – | – | – | None | – | – | – | – | None |
| 8 | BPY2 | 74 | 39 | 92 | 100 | 26 | 61 | 8 | – | G > A (EcoRV) | – | – | – | – | None |
*OS, AZ, INS and NFM indicate oligospermic, azoospermic, infertile males with normal spermiogram and normal fertile males, respectively. RS means restriction site specific to a particular SNV, whereas “-”sign indicates absence of the allele. We used 55 control fertile males and all were found to be normal.