Spectrum of gr/gr and b2/b3Y chromosome microdeletions in Pakistani population

ABSTRACT

To evaluate the frequency and clinical significance of gr/gr and 52/53 deletions in Pakistani population. In this study, we analyzed Y chromosome deletions using markers sY1191 and sY1291 in patients with azoospermia [n=26], severe oligozoospermia [n=29], moderate oligozoospermia [n=24] and normozoospermia [n=9] using multiplex PCR. Control group consisted of fertile men with normal spermatogenesis [n=30] having children. The overall deletion frequency of gr/gr was 6.8% [6 788] while that of b2/b3 was 5.6% [5/88]. gr/gr deletions were detected in 4 men with severe oligozoospermia, 1 with azoospermia and 1 normospermic [but infertile] man. b2/b3 deletion was found in 3 severe oligozoospermic and 2 azoospermic men. None of the control group had either gr/gr or b2/b3 deletion. Our results indicate that both gr/gr and 52/53 deletions are a risk factor for spermatogenic failure in the population under study