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精子 DNA 变异及其与妊娠的关系。

Variations in Sperm DNA and Its Correlation to Pregnancy.

机构信息

Departement of Obstetrics and Gynecology, IVF Laboratory, Saarland University Clinic, 66421 Homburg, Germany.

Departement of Obstertics and Gynecology, IVF Laboratory, Freiburg University Clinic, 79106 Freiburg, Germany.

出版信息

Int J Mol Sci. 2024 May 31;25(11):6048. doi: 10.3390/ijms25116048.

Abstract

Abnormalities in sperm nuclei and chromatin can interfere with normal fertilization, embryonic development, implantation, and pregnancy. We aimed to study the impact of gene variants in sperm DNA on ICSI outcomes in couples undergoing ART treatment. One hundred and nineteen partners were divided into pregnant (G1) and non-pregnant (G2) groups. After semen analysis, complete DNA was extracted from purified sperm samples. The sequence of the gene was amplified by PCR and then subjected to Sanger sequencing. The results showed that there are three mutations in this gene: rs7885967, rs553509, and rs578953. Significant differences were shown in the distribution of alternative and reference alleles between G1 and G2 ( = 0.0004 and = 0.0020, respectively) for rs553509 and rs578953. However, there was no association between these SNPs and the studied parameters. This study is the first to shed light on the connection between gene variants in sperm DNA and pregnancy after ICSI therapy. This is a pilot study, so further investigations about these gene variants at the transcriptional and translational levels will help to determine its functional consequences and to clarify the mechanism of how pregnancy can be affected by sperm DNA.

摘要

精子核和染色质的异常可能会干扰正常受精、胚胎发育、着床和妊娠。我们旨在研究精子 DNA 中基因变异对接受 ART 治疗的夫妇的 ICSI 结局的影响。119 对夫妇分为妊娠组(G1)和非妊娠组(G2)。精液分析后,从纯化的精子样本中提取完整的 DNA。通过 PCR 扩增基因序列,然后进行 Sanger 测序。结果显示该基因有三个突变:rs7885967、rs553509 和 rs578953。rs553509 和 rs578953 在 G1 和 G2 之间的替代和参考等位基因的分布存在显著差异(=0.0004 和=0.0020)。然而,这些 SNP 与研究参数之间没有关联。这项研究首次揭示了精子 DNA 中 基因变异与 ICSI 治疗后的妊娠之间的联系。这是一项初步研究,因此进一步研究这些基因变异在转录和翻译水平上的功能将有助于确定其功能后果,并阐明精子 DNA 如何影响妊娠的机制。

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