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The microdeletions of the Y chromosome are associated with a decreased number of sperm cells in the ejaculate and male infertility. One such deletion is the gr/gr, which leads to reduction of the alleles in the DAZ gene. In order to evaluate its role, 30 patients with sperm count below 5 × 106/mL and 30 normal fertile men were genotyped for microdeletions in Azoospermia Factor (AZF) region, including gr/gr deletion. Twenty-one men (70.00%) from the males with impaired fertility had a normal genotype, seven men (23.33%) were carriers of a gr/gr deletion, and two men (6.67%) demonstrated a deletion of the AZFc region. From the control group, there were 22 men (73.33%) with no deletion, seven (23.33%) carried a gr/gr deletion, and one man (3.33%) carried a possible deletion in the b1-b4 region of the Y chromosome. The gr/gr deletion of the Y chromosome showed a statistically nonsignificant difference (p = 0.94, alpha < 0.05) with the control group (chi-square, degrees of freedom 0.006). The results from the research show no association between this deletion and male infertility in the studied population. Despite the small sample size, the high frequency of the gr/gr deletion, found in the control group, suggests that this variant may not be associated with impaired spermatogenesis.

The association of gr/gr deletion in the Y chromosome and impaired spermatogenesis in Bulgarian males: a pilot study