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

Mariya Levkova,Lyudmila Angelova,Trifon Chervenkov

doi:10.1186/s43043-020-00020-9

Mariya Levkova, Lyudmila Angelova + Show 1 more

Open Access

https://doi.org/10.1186/s43043-020-00020-9

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Abstract

BackgroundThe 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.ResultsTwenty-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).ConclusionThe 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.

Highlights

The microdeletions of the Y chromosome are associated with a decreased number of sperm cells in the ejaculate and male infertility
After Klinefelter syndrome the microdeletions of the azoospermia factor (AZF) region in the long arm of the
The aim of this research was to analyze the role of the gr/gr deletion in Bulgarian males with oligo- or azoospermia and to report data, since there is no information for our country

Summary

Introduction

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. After Klinefelter syndrome the microdeletions of the azoospermia factor (AZF) region in the long arm of the Ychromosome are the second most common reason for male infertility [11]. In this region, there are three spermatogenesis loci, named AZFa, AZFb, and AZFc [23]. In most of the cases, they involve regions b2/b4, b1/b3, b2/b3, and gr/gr, which leads to the lack of DAZ gene [12, 19]

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