Y chromosome micro-deletions in male infertility screened by real-time PCR

Abstract:

Objectives：To investigate the applicability of real-time PCR in detecting Y chromosome micro-deletions and the incidence of Y chromosome micro-deletions in male infertility due to azoospermia and oligozoospermia. Methods：The specimens，respectively derived from 6 patients with Y chromosome micro-deletions，4 female cases and 4 normal fertile men，were gathered and detected by real-time PCR and multiplex PCR-electrophoresis for Y chromosome azoospermia factor（AZF） AZFa，AZFb，AZFc. Then peripheral blood of 452 male infertile patients were collected，and sequence tagged sites（STSs） of micro-deletions in Y chromosome AZF were detected using real-time PCR. Results：The detection results from the two methods described above respectively，for six consensus STSs of 14 samples，were wholly consistent. In 452 patients with male infertility，including 96 patients with oligo-asthenospermia，9 patients with severe oligozoospermia，69 patients with azoospermia，3 patients with teratospermia and 275 patients with other male in－fertility，eight AZFc region deletions，one AZFb region deletion and two AZFbc region deletions were all found by real time PCR. The positive rate of Y chromosome micro-deletions was respectively 5.21%，11.1% and 7.25% in oligo-asthenospermia，severe oligo－zoospermia and azoospermia，while in other two groups no micro-deletion was detected. Conclusion：Real-time PCR，used to de－tect Y chromosome micro-deletions，has the same results with that of the classical multiplex PCR-electrophoresis，and the test results are consistent with the corresponding clinical diagnosis，therefore real-time PCR is suitable for clinical laboratory screening for Y chromosome micro-deletions.