prevalence of Y chromosome microdeletions in Pakistani infertile men

Microdeletions of the azoospermia factor locus of the long arm of Y chromosome are an etiological factor of severe oligozoospermia or azoospermia. The aim of this study was to investigate the prevalence of Y-chromosome microdeletions in AZF region and their role in infertility in Pakistani population. The type of deletions in AZF locus were detected in infertile men [n=113] and the association of Y chromosome microdeletions with male infertility was assessed by including men [50] with normal karyotype and having children. Y chromosome microdeletions were detected by multiplex PCR using 10 sequence tagged sites namely sY81, sY130, sY141, sY142, sY155, sY157, sY160, sY182, sY231, and sY202 that covered all three regions of AZF. Individuals with severe oligozoospermia showed 2.86% deletion frequency in AZFc region as compared to azoospermic males [5.5%]. The results of our study showed that deletions in Y chromosome are not playing major part in male infertility. Moreover, multiplex-PCR strategy might preferably be employed for the detection of Y chromosome microdeletions allied to male infertility

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

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