Study on the influence of the sY1192 gene locus in the AZFb/c region on sperm quality and pregnancy outcome.

Gang-Xin Chen, Yan Sun, Rui Yang, Zhi-Qing Huang, Hai-Yan Li, Bei-Hong Zheng
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Abstract

Y chromosome microdeletions are an important cause of male infertility. At present, research on the Y chromosome is mainly focused on analyzing the loss of large segments of the azoospermia factor a/b/c (AZFa/b/c) gene, and few studies have reported the impact of unit point deletion in the AZF band on fertility. This study analyzed the effect of sperm quality after sY1192 loss in 116 patients. The sY1192-independent deletion accounted for 41.4% (48/116). Eight patterns were found in the deletions associated with sY1192. The rate of sperm detection was similar in the semen of patients with the independent sY1192 deletion and the combined sY1192 deletions (52.1% vs 50.0%). The patients with only sY1192 gene loss had a higher probability of sperm detection than the patients whose sY1192 gene locus existed, but other gene loci were lost (52.1% vs 32.0%). The hormone levels were similar in patients with sY1192 deletion alone and in those with sY1192 deletion and other types of microdeletions in the presence of the sY1192 locus. After multiple intracytoplasmic sperm injection (ICSI) attempts, the pregnancy rate of spouses of men with sY1192-independent deletions was similar to that of other types of microdeletions, but the fertilization and cleavage rates were higher. We observed that eight deletion patterns were observed for sY1192 microdeletions of AZFb/c, dominated by the independent deletion of sY1192. After ICSI, the fertilization rate and cleavage rate of the sY1192-independent microdeletion were higher than those of other Y chromosome microdeletion types, but there was no significant difference in pregnancy outcomes.

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研究 AZFb/c 地区 sY1192 基因位点对精子质量和妊娠结果的影响。
Y染色体微缺失是导致男性不育的一个重要原因。目前,有关Y染色体的研究主要集中在分析无精子症因子a/b/c(AZFa/b/c)基因大段缺失,很少有研究报道AZF带单位点缺失对生育能力的影响。本研究分析了116名患者sY1192缺失后对精子质量的影响。与 sY1192 无关的缺失占 41.4%(48/116)。在与 sY1192 相关的缺失中发现了八种模式。独立 sY1192 缺失和合并 sY1192 缺失患者精液中的精子检出率相似(52.1% vs 50.0%)。仅有 sY1192 基因缺失的患者精子检出率高于 sY1192 基因位点存在但其他基因位点缺失的患者(52.1% 对 32.0%)。单独存在 sY1192 基因缺失的患者与存在 sY1192 基因缺失和其他类型微缺失的患者的激素水平相似。经过多次卵胞浆内单精子显微注射(ICSI)尝试后,sY1192 基因缺失男性配偶的妊娠率与其他类型微缺失的妊娠率相似,但受精率和卵裂率更高。我们观察到,AZFb/c 的 sY1192 微缺失有八种缺失模式,其中以 sY1192 独立缺失为主。卵胞浆内单精子显微注射(ICSI)后,sY1192独立微缺失的受精率和卵裂率均高于其他Y染色体微缺失类型,但妊娠结局无显著差异。
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