Table 2. Known and novel deletions identified in our study.
Region | AZFa***,† | AZFc | Yp† | ||||||
---|---|---|---|---|---|---|---|---|---|
AZFb****,† | b2/b3 | b1/b3 | b1/b2† | DAZ deletion† | |||||
NOA | frequency | 2(0.26%) | 1(0.13%) | 1(0.13%) | 54(7.0%) | 7(0.91%)** | 2(0.26%) | 5(0.65%) | 1(0.13%) |
sample ID | W606, W635 | W600 | W140 | * | W306,W344,W135,W047.W241,W451,W688 | W563,W216 | W074,W1404,W141,W315, W461 | W529 | |
Normal | frequency | 1(0.15%) | 1(0.15%) | 0 | 42(6.1%) | 2(0.29%) | 0 | 0 | 0 |
sample ID | 1074 | 247 | * | 1871,1973 | |||||
Major genes affected | CDY | RBMY, PRY, DAZ, CDY | DAZ, CDY | RBMY, PRY, DAZ | RBMY, PRY | DAZ | TSPY, RBMY, PCDH11YPRKY |
*Details not indicated.
**Includes two b1/b3 deletions (W451 and W688) with the gr/rg inverted organization.
***Indicates that various forms of partial deletions occurred within the AZFa or AZFb regions.
†Novel deletions